ClinVar Miner

List of variants in gene SCN5A reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 6
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HGVS dbSNP
NM_000335.4(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.4(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.4(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039

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