ClinVar Miner

List of variants in gene SCN5A reported as uncertain significance by Biesecker Lab/Human Development Section,National Institutes of Health

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.1652C>T (p.Ala551Val) rs201641342
NM_000335.4(SCN5A):c.1873G>C (p.Glu625Gln) rs201552126
NM_000335.4(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136
NM_000335.4(SCN5A):c.1940C>T (p.Ala647Val) rs185638763
NM_000335.4(SCN5A):c.1975C>T (p.Arg659Trp) rs730880205
NM_000335.4(SCN5A):c.2066G>A (p.Arg689His) rs199473145
NM_000335.4(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147
NM_000335.4(SCN5A):c.2423G>A (p.Arg808His) rs199473160
NM_000335.4(SCN5A):c.4591G>T (p.Val1531Phe) rs199473618
NM_000335.4(SCN5A):c.5210C>T (p.Ser1737Phe) rs786205271
NM_000335.4(SCN5A):c.5213G>A (p.Arg1738Gln) rs200217157
NM_000335.4(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619
NM_000335.4(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333
NM_000335.4(SCN5A):c.73G>A (p.Glu25Lys) rs747251132
NM_000335.4(SCN5A):c.818T>C (p.Met273Thr) rs200076065

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