ClinVar Miner

List of variants in gene SCN5A reported by Blueprint Genetics,

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Total variants: 48
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HGVS dbSNP
NM_000335.4(SCN5A):c.1036G>A (p.Glu346Lys) rs368552426
NM_000335.4(SCN5A):c.103G>A (p.Gly35Ser) rs199473552
NM_000335.4(SCN5A):c.1140+1G>A rs730880210
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1252G>T (p.Glu418Ter) rs869025519
NM_000335.4(SCN5A):c.1598G>A (p.Arg533His) rs146848219
NM_000335.4(SCN5A):c.1671C>G (p.His557Gln) rs762858787
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.4(SCN5A):c.1840C>T (p.Pro614Ser) rs730880204
NM_000335.4(SCN5A):c.1975C>T (p.Arg659Trp) rs730880205
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.2174_2175TG[3] (p.Ile727fs) rs869025523
NM_000335.4(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157
NM_000335.4(SCN5A):c.2399G>A (p.Arg800His) rs566251672
NM_000335.4(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_000335.4(SCN5A):c.328G>A (p.Ala110Thr) rs730880202
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3914G>A (p.Arg1305His) rs730880207
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.4129G>A (p.Val1377Met) rs748312802
NM_000335.4(SCN5A):c.413T>C (p.Met138Thr) rs730880203
NM_000335.4(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.4(SCN5A):c.4471_4473AAG[1] (p.Lys1492del) rs869025522
NM_000335.4(SCN5A):c.4514C>T (p.Pro1505Leu) rs766554531
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4672A>G (p.Ile1558Val) rs779999584
NM_000335.4(SCN5A):c.4824G>A (p.Ser1608=) rs886058460
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625
NM_000335.4(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.4(SCN5A):c.5072T>C (p.Phe1691Ser) rs869025521
NM_000335.4(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.4(SCN5A):c.559A>G (p.Thr187Ala) rs869025517
NM_000335.4(SCN5A):c.5668C>G (p.Pro1890Ala) rs730880208
NM_000335.4(SCN5A):c.568C>G (p.Arg190Gly) rs199473068
NM_000335.4(SCN5A):c.5798G>A (p.Ser1933Asn) rs730880209
NM_000335.4(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.4(SCN5A):c.725C>T (p.Ala242Val) rs869025518
NM_000335.4(SCN5A):c.739G>C (p.Val247Leu) rs199473078
NM_000335.4(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_000335.4(SCN5A):c.998+5G>A rs187531872

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