{"data":{"meta":{"clinvar_release_date":"2026-10-11"},"gene":{"gene_id":"ENSG00000205592","clinvar_variants":[{"clinical_significance":"Likely benign","clinvar_variation_id":"2642854","gnomad":{"exome":{"ac":6,"an":299542,"filters":[]},"genome":{"ac":1,"an":152090,"filters":[]}},"gold_stars":1,"hgvsc":"c.138C>T","hgvsp":"p.Ser46Ser","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40406049,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40406049-C-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642855","gnomad":{"exome":{"ac":461,"an":1126048,"filters":[]},"genome":{"ac":92,"an":152310,"filters":[]}},"gold_stars":1,"hgvsc":"c.396A>G","hgvsp":"p.Ser132Ser","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40408359,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40408359-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642856","gnomad":{"exome":{"ac":22,"an":1136562,"filters":[]},"genome":{"ac":1,"an":152046,"filters":[]}},"gold_stars":1,"hgvsc":"c.1305T>A","hgvsp":"p.Ser435Ser","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40416343,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40416343-T-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642857","gnomad":{"exome":{"ac":22,"an":1136582,"filters":[]},"genome":{"ac":1,"an":151896,"filters":[]}},"gold_stars":1,"hgvsc":"c.1308A>G","hgvsp":"p.Gly436Gly","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40416346,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40416346-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642858","gnomad":{"exome":{"ac":15,"an":1151362,"filters":[]},"genome":{"ac":2,"an":152130,"filters":[]}},"gold_stars":1,"hgvsc":"c.1335G>A","hgvsp":"p.Ser445Ser","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40418143,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40418143-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642859","gnomad":{"exome":{"ac":1809,"an":1151872,"filters":[]},"genome":{"ac":361,"an":152228,"filters":[]}},"gold_stars":1,"hgvsc":"c.2564G>A","hgvsp":"p.Arg855His","in_gnomad":true,"major_consequence":"missense_variant","pos":40431657,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40431657-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642860","gnomad":{"exome":{"ac":116,"an":1152118,"filters":[]},"genome":{"ac":47,"an":152014,"filters":[]}},"gold_stars":1,"hgvsc":"c.3171G>A","hgvsp":"p.Ala1057Ala","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40436694,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40436694-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642861","gnomad":{"exome":{"ac":4701,"an":1151680,"filters":[]},"genome":{"ac":481,"an":152286,"filters":[]}},"gold_stars":1,"hgvsc":"c.3705C>T","hgvsp":"p.Asp1235Asp","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40441144,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40441144-C-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642862","gnomad":{"exome":{"ac":149,"an":1152032,"filters":[]},"genome":{"ac":28,"an":152320,"filters":[]}},"gold_stars":1,"hgvsc":"c.4479G>A","hgvsp":"p.Val1493Val","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40444415,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40444415-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642863","gnomad":{"exome":{"ac":49,"an":1151000,"filters":[]},"genome":{"ac":8,"an":151778,"filters":[]}},"gold_stars":1,"hgvsc":"c.5031G>A","hgvsp":"p.Ala1677Ala","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40450688,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40450688-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642864","gnomad":{"exome":{"ac":873,"an":1109642,"filters":[]},"genome":{"ac":132,"an":152250,"filters":[]}},"gold_stars":1,"hgvsc":"c.5634T>C","hgvsp":"p.Gly1878Gly","in_gnomad":true,"major_consequence":"splice_region_variant","pos":40465588,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40465588-T-C"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642865","gnomad":{"exome":{"ac":1347,"an":833048,"filters":[]},"genome":{"ac":150,"an":151456,"filters":[]}},"gold_stars":1,"hgvsc":"c.6498G>A","hgvsp":"p.Ser2166Ser","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40479450,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40479450-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642866","gnomad":{"exome":{"ac":7367,"an":833108,"filters":[]},"genome":{"ac":869,"an":152152,"filters":[]}},"gold_stars":1,"hgvsc":"c.7629T>C","hgvsp":"p.Asp2543Asp","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40480581,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40480581-T-C"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642867","gnomad":{"exome":{"ac":217,"an":801786,"filters":[]},"genome":{"ac":318,"an":145640,"filters":[]}},"gold_stars":1,"hgvsc":"c.9075G>A","hgvsp":"p.Gly3025Gly","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40482027,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40482027-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3770917","gnomad":{"exome":{"ac":3168,"an":832578,"filters":[]},"genome":{"ac":307,"an":152170,"filters":[]}},"gold_stars":1,"hgvsc":"c.10478T>A","hgvsp":"p.Val3493Glu","in_gnomad":true,"major_consequence":"missense_variant","pos":40483430,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40483430-T-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3770899","gnomad":{"exome":null,"genome":{"ac":1,"an":143328,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.11283G>A","hgvsp":"p.Gly3761Gly","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40484235,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40484235-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642868","gnomad":{"exome":{"ac":3,"an":828164,"filters":[]},"genome":null},"gold_stars":1,"hgvsc":"c.11940A>T","hgvsp":"p.Gly3980Gly","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40484892,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40484892-A-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3771151","gnomad":{"exome":null,"genome":{"ac":37,"an":125432,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.12514A>G","hgvsp":"p.Asn4172Asp","in_gnomad":true,"major_consequence":"missense_variant","pos":40485466,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40485466-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3771034","gnomad":{"exome":{"ac":1,"an":832672,"filters":[]},"genome":{"ac":1,"an":144222,"filters":[]}},"gold_stars":1,"hgvsc":"c.12538A>G","hgvsp":"p.Asn4180Asp","in_gnomad":true,"major_consequence":"missense_variant","pos":40485490,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40485490-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3770945","gnomad":{"exome":null,"genome":{"ac":2,"an":137454,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.12568C>G","hgvsp":"p.His4190Asp","in_gnomad":true,"major_consequence":"missense_variant","pos":40485520,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40485520-C-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3771104","gnomad":{"exome":{"ac":34,"an":797210,"filters":[]},"genome":{"ac":23,"an":118088,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.12718A>G","hgvsp":"p.Asn4240Asp","in_gnomad":true,"major_consequence":"missense_variant","pos":40485670,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40485670-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642869","gnomad":{"exome":{"ac":6886,"an":798434,"filters":[]},"genome":{"ac":695,"an":145632,"filters":[]}},"gold_stars":1,"hgvsc":"c.12778G>A","hgvsp":"p.Asp4260Asn","in_gnomad":true,"major_consequence":"missense_variant","pos":40485730,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40485730-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642870","gnomad":{"exome":null,"genome":null},"gold_stars":1,"hgvsc":"c.12794C>T","hgvsp":"p.Ala4265Val","in_gnomad":false,"major_consequence":"missense_variant","pos":40485746,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40485746-C-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642871","gnomad":{"exome":{"ac":225,"an":832360,"filters":[]},"genome":{"ac":14,"an":149610,"filters":[]}},"gold_stars":1,"hgvsc":"c.12847A>T","hgvsp":"p.Asn4283Tyr","in_gnomad":true,"major_consequence":"missense_variant","pos":40485799,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40485799-A-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642872","gnomad":{"exome":{"ac":17,"an":833232,"filters":[]},"genome":{"ac":12,"an":152292,"filters":[]}},"gold_stars":1,"hgvsc":"c.13399T>G","hgvsp":"p.Trp4467Gly","in_gnomad":true,"major_consequence":"missense_variant","pos":40486351,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40486351-T-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642873","gnomad":{"exome":null,"genome":{"ac":4,"an":118246,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.13561G>T","hgvsp":"p.Gly4521Cys","in_gnomad":true,"major_consequence":"missense_variant","pos":40486513,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40486513-G-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642874","gnomad":{"exome":null,"genome":{"ac":6,"an":150100,"filters":[]}},"gold_stars":1,"hgvsc":"c.13630A>G","hgvsp":"p.Thr4544Ala","in_gnomad":true,"major_consequence":"missense_variant","pos":40486582,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40486582-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3771515","gnomad":{"exome":{"ac":1,"an":833378,"filters":["AS_VQSR"]},"genome":null},"gold_stars":1,"hgvsc":"c.13702A>G","hgvsp":"p.Ser4568Gly","in_gnomad":true,"major_consequence":"missense_variant","pos":40486654,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40486654-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3770946","gnomad":{"exome":null,"genome":{"ac":1,"an":144074,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.13720C>A","hgvsp":"p.Pro4574Thr","in_gnomad":true,"major_consequence":"missense_variant","pos":40486672,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40486672-C-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"4534239","gnomad":{"exome":{"ac":1,"an":737620,"filters":["AS_VQSR"]},"genome":{"ac":7,"an":129532,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.15322G>A","hgvsp":"p.Gly5108Ser","in_gnomad":true,"major_consequence":"missense_variant","pos":40488274,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40488274-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"4534032","gnomad":{"exome":{"ac":1,"an":737642,"filters":["AS_VQSR"]},"genome":{"ac":10,"an":125038,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.15352G>T","hgvsp":"p.Gly5118Cys","in_gnomad":true,"major_consequence":"missense_variant","pos":40488304,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40488304-G-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"4533740","gnomad":{"exome":null,"genome":null},"gold_stars":1,"hgvsc":"c.15622G>A","hgvsp":"p.Gly5208Ser","in_gnomad":false,"major_consequence":"missense_variant","pos":40488574,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40488574-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3771196","gnomad":{"exome":null,"genome":null},"gold_stars":1,"hgvsc":"c.16393A>G","hgvsp":"p.Ile5465Val","in_gnomad":false,"major_consequence":"missense_variant","pos":40489345,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40489345-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3771188","gnomad":{"exome":null,"genome":null},"gold_stars":1,"hgvsc":"c.16402A>G","hgvsp":"p.Ser5468Gly","in_gnomad":false,"major_consequence":"missense_variant","pos":40489354,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40489354-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3771310","gnomad":{"exome":{"ac":31,"an":738100,"filters":[]},"genome":{"ac":1,"an":136040,"filters":[]}},"gold_stars":1,"hgvsc":"c.16421_16450del","hgvsp":"p.Ile5474_Trp5483del","in_gnomad":true,"major_consequence":"inframe_deletion","pos":40489363,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40489363-GACAACTGGATCATCAGCTGGGGTGACAGGC-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642875","gnomad":{"exome":null,"genome":null},"gold_stars":1,"hgvsc":"c.16423A>G","hgvsp":"p.Ile5475Val","in_gnomad":false,"major_consequence":"missense_variant","pos":40489375,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40489375-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3067314","gnomad":{"exome":null,"genome":null},"gold_stars":1,"hgvsc":"c.16948A>T","hgvsp":"p.Arg5650Trp","in_gnomad":false,"major_consequence":"missense_variant","pos":40489900,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40489900-A-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3067355","gnomad":{"exome":null,"genome":{"ac":1,"an":54838,"filters":["AS_VQSR"]}},"gold_stars":1,"hgvsc":"c.17458A>T","hgvsp":"p.Arg5820Trp","in_gnomad":true,"major_consequence":"missense_variant","pos":40490410,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40490410-A-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642876","gnomad":{"exome":null,"genome":null},"gold_stars":1,"hgvsc":"c.17551G>C","hgvsp":"p.Asp5851His","in_gnomad":false,"major_consequence":"missense_variant","pos":40490503,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40490503-G-C"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642877","gnomad":{"exome":{"ac":17,"an":833122,"filters":[]},"genome":{"ac":16,"an":152294,"filters":[]}},"gold_stars":1,"hgvsc":"c.18232A>C","hgvsp":"p.Asn6078His","in_gnomad":true,"major_consequence":"missense_variant","pos":40491184,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40491184-A-C"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642878","gnomad":{"exome":{"ac":2,"an":25712,"filters":["AS_VQSR"]},"genome":{"ac":8,"an":152244,"filters":[]}},"gold_stars":1,"hgvsc":"c.18763C>A","hgvsp":"p.Pro6255Thr","in_gnomad":true,"major_consequence":"missense_variant","pos":40501181,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40501181-C-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642879","gnomad":{"exome":null,"genome":{"ac":9,"an":152292,"filters":[]}},"gold_stars":1,"hgvsc":"c.18781C>A","hgvsp":"p.Gln6261Lys","in_gnomad":true,"major_consequence":"missense_variant","pos":40501199,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40501199-C-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642880","gnomad":{"exome":{"ac":11,"an":20054,"filters":["AS_VQSR"]},"genome":{"ac":100,"an":152258,"filters":[]}},"gold_stars":1,"hgvsc":"c.19189C>T","hgvsp":"p.Gln6397Ter","in_gnomad":true,"major_consequence":"stop_gained","pos":40506286,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40506286-C-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642881","gnomad":{"exome":{"ac":1,"an":588,"filters":[]},"genome":{"ac":201,"an":152222,"filters":[]}},"gold_stars":1,"hgvsc":"c.19222C>T","hgvsp":"p.His6408Tyr","in_gnomad":true,"major_consequence":"missense_variant","pos":40507004,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40507004-C-T"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642882","gnomad":{"exome":null,"genome":{"ac":1,"an":152168,"filters":[]}},"gold_stars":1,"hgvsc":"c.19689C>A","hgvsp":"p.Thr6563Thr","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40511005,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40511005-C-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642883","gnomad":{"exome":{"ac":1,"an":833110,"filters":[]},"genome":null},"gold_stars":1,"hgvsc":"c.19983C>A","hgvsp":"p.Thr6661Thr","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40515178,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40515178-C-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"3770604","gnomad":{"exome":{"ac":4424,"an":1397690,"filters":[]},"genome":{"ac":458,"an":152242,"filters":[]}},"gold_stars":1,"hgvsc":"c.22087+7G>A","hgvsp":null,"in_gnomad":true,"major_consequence":"splice_region_variant","pos":40536491,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40536491-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642884","gnomad":{"exome":{"ac":10939,"an":1398028,"filters":[]},"genome":{"ac":683,"an":152250,"filters":[]}},"gold_stars":1,"hgvsc":"c.22185G>A","hgvsp":"p.Val7395Val","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40537672,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40537672-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642885","gnomad":{"exome":{"ac":36,"an":1046330,"filters":[]},"genome":{"ac":13,"an":152240,"filters":[]}},"gold_stars":1,"hgvsc":"c.22443A>G","hgvsp":"p.Glu7481Glu","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40541834,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40541834-A-G"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642886","gnomad":{"exome":{"ac":15,"an":1203126,"filters":[]},"genome":{"ac":1,"an":152160,"filters":[]}},"gold_stars":1,"hgvsc":"c.22596G>A","hgvsp":"p.Val7532Val","in_gnomad":true,"major_consequence":"synonymous_variant","pos":40542796,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40542796-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"4681310","gnomad":{"exome":{"ac":3472,"an":1150718,"filters":[]},"genome":{"ac":385,"an":152246,"filters":[]}},"gold_stars":1,"hgvsc":"c.22924G>A","hgvsp":"p.Gly7642Arg","in_gnomad":true,"major_consequence":"missense_variant","pos":40545398,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40545398-G-A"},{"clinical_significance":"Likely benign","clinvar_variation_id":"2642887","gnomad":{"exome":{"ac":10,"an":1150702,"filters":[]},"genome":{"ac":2,"an":152152,"filters":[]}},"gold_stars":1,"hgvsc":"c.23811C>T","hgvsp":"p.Val7937Val","in_gnomad":true,"major_consequence":"splice_region_variant","pos":40561005,"review_status":"criteria provided, single submitter","transcript_id":"ENST00000454784","variant_id":"12-40561005-C-T"}]}}}