ClinVar Miner

List of variants in gene SCN5A studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 8
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HGVS dbSNP
NM_000335.4(SCN5A):c.1140+1G>A rs730880210
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.1975C>T (p.Arg659Trp) rs730880205
NM_000335.4(SCN5A):c.328G>A (p.Ala110Thr) rs730880202
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.5798G>A (p.Ser1933Asn) rs730880209
NM_000335.4(SCN5A):c.725C>T (p.Ala242Val) rs869025518

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