ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for Brugada syndrome 1; Long QT syndrome 3

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.3388-1G>C
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)

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