ClinVar Miner

List of variants reported as likely pathogenic by Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute

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Total variants: 6
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HGVS dbSNP
NM_000081.3(LYST):c.2971C>A (p.His991Asn) rs864309530
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005592.4(MUSK):c.2382G>C (p.Glu794Asp) rs756877019
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737

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