ClinVar Miner

List of variants in gene SCN5A studied for Long QT syndrome 3

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Total variants: 41
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HGVS dbSNP
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1298G>A (p.Arg433His) rs879035421
NM_000335.4(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133
NM_000335.4(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733
NM_000335.4(SCN5A):c.2437-7T>C
NM_000335.4(SCN5A):c.2643G>T (p.Met881Ile) rs1559756973
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616
NM_000335.4(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.4(SCN5A):c.4390T>C (p.Phe1464Leu) rs1559728884
NM_000335.4(SCN5A):c.4434+5G>A rs1057520531
NM_000335.4(SCN5A):c.4460C>A (p.Thr1487Lys)
NM_000335.4(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266
NM_000335.4(SCN5A):c.4502G>A (p.Gly1501Asp) rs1230010586
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.4(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.4(SCN5A):c.4874G>A (p.Arg1625His) rs199473283
NM_000335.4(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.4937T>C (p.Leu1646Pro) rs1060499611
NM_000335.4(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.4(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.4(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.4(SCN5A):c.5382_5384dup (p.Glu1795_Ile1796insAsp) rs397514449
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000335.4(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.880G>A (p.Val294Met) rs199473086
NM_001099404.1(SCN5A):c.615T>G (p.Tyr205Ter)

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