ClinVar Miner

List of variants in gene SCN5A studied for Brugada syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000335.4(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1066G>T (p.Asp356Tyr)
NM_000335.4(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_000335.4(SCN5A):c.142G>A (p.Glu48Lys) rs199473048
NM_000335.4(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.4(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.4(SCN5A):c.2213A>C (p.His738Pro) rs1135401948
NM_000335.4(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000335.4(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599
NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000335.4(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.4(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.4(SCN5A):c.422T>A (p.Ile141Asn) rs772186966
NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.4(SCN5A):c.4309C>T (p.Pro1437Ser) rs1559729142
NM_000335.4(SCN5A):c.435C>A (p.Cys145Ter)
NM_000335.4(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.4(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.4(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.4(SCN5A):c.536G>A (p.Arg179Gln) rs760585484
NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.4(SCN5A):c.5382_5384dup (p.Glu1795_Ile1796insAsp) rs397514449
NM_000335.4(SCN5A):c.5537G>A (p.Arg1846His) rs369058100
NM_000335.4(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603
NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.4(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000335.4(SCN5A):c.611+1G>A rs794728843
NM_000335.4(SCN5A):c.611+3_611+4dup rs397514252
NM_000335.4(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.4(SCN5A):c.845G>A (p.Arg282His) rs199473083
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_001099404.1(SCN5A):c.615T>G (p.Tyr205Ter)
NM_198056.2(SCN5A):c.4813+3_4813+6dup rs886037904
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.