ClinVar Miner

List of variants in gene SCN5A reported as pathogenic by OMIM

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Total variants: 43
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HGVS dbSNP
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_000335.4(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115
NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys) rs137854606
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3890C>T (p.Pro1297Leu) rs28937319
NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.4(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000335.4(SCN5A):c.611+3_611+4dup rs397514252
NM_000335.4(SCN5A):c.635T>C (p.Leu212Pro) rs199473070
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_001099404.1(SCN5A):c.892G>A (p.Gly298Ser) rs137854608
NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_198056.2(SCN5A):c.1333C>G (p.His445Asp) rs199473112
NM_198056.2(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_198056.2(SCN5A):c.2550_2551dupGT (p.Phe851Cysfs) rs397514450
NM_198056.2(SCN5A):c.3784G>A (p.Gly1262Ser) rs137854616
NM_198056.2(SCN5A):c.3823G>A (p.Asp1275Asn) rs137854618
NM_198056.2(SCN5A):c.3963+2T>C rs397514447
NM_198056.2(SCN5A):c.4190del (p.Lys1397Argfs) rs397514446
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) rs137854607
NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) rs137854613
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.5131del (p.Ala1711Profs) rs397514448
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.5384A>G (p.Tyr1795Cys) rs137854614
NM_198056.2(SCN5A):c.5385_5387dup (p.Tyr1795_Glu1796insAsp) rs397514449
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_198056.2(SCN5A):c.[1535C>T;1673A>G]
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]

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