ClinVar Miner

List of variants in gene SCN5A reported as benign for Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01093
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00283
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423

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