ClinVar Miner

List of variants studied for Congenital long QT syndrome by All of Us Research Program, National Institutes of Health

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.1273G>A (p.Ala425Thr) rs761117662
NM_000335.5(SCN5A):c.2126G>T (p.Gly709Val) rs199473581
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.3273del (p.Arg1092fs)
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5972_5973dup (p.Ser1992fs)
NM_000335.5(SCN5A):c.5982C>A (p.Tyr1994Ter) rs794728941

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