ClinVar Miner

List of variants in gene SCN5A reported as pathogenic by Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University

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Total variants: 6
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HGVS dbSNP
NM_000335.4(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_000335.4(SCN5A):c.2184_2186del (p.Leu729del) rs1060499940
NM_000335.4(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000335.4(SCN5A):c.6045G>A (p.Val2015=) rs1060499941

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