ClinVar Miner

List of variants in gene SCN5A reported as pathogenic by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Total variants: 13
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HGVS dbSNP
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.435C>A (p.Cys145Ter)
NM_000335.4(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.4(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.4(SCN5A):c.611+1G>A rs794728843
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072

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