ClinVar Miner

List of variants studied 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 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00008
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys) rs745435760 0.00003
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00002
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00002
NM_000335.5(SCN5A):c.1939G>T (p.Ala647Ser) rs753232371 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.2683C>T (p.Leu895Phe)
NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter)
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298

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