ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for Brugada syndrome

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NC_000003.11:g.(?_38589553)_(38593049_?)del
NC_000003.11:g.(?_38627162)_(38646419_?)del
NC_000003.11:g.(?_38651205)_(38651475_?)del
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1066G>T (p.Asp356Tyr)
NM_000335.4(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_000335.4(SCN5A):c.1141-1G>A rs1377226524
NM_000335.4(SCN5A):c.1338+2T>A rs786204839
NM_000335.4(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_000335.4(SCN5A):c.2204C>A (p.Ala735Glu) rs137854611
NM_000335.4(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.4(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.4(SCN5A):c.2657A>C (p.His886Pro) rs199473169
NM_000335.4(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_000335.4(SCN5A):c.2678G>A (p.Arg893His) rs199473172
NM_000335.4(SCN5A):c.2787+1G>T rs1060501130
NM_000335.4(SCN5A):c.3570G>A (p.Trp1190Ter)
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.393-1C>T rs759235726
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3960+1G>A rs483353016
NM_000335.4(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.4(SCN5A):c.4129G>A (p.Val1377Met) rs748312802
NM_000335.4(SCN5A):c.4134_4136CAA[1] (p.Asn1379del) rs794728922
NM_000335.4(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.4(SCN5A):c.4242+1G>C rs794728879
NM_000335.4(SCN5A):c.4309C>T (p.Pro1437Ser) rs1559729142
NM_000335.4(SCN5A):c.4471_4473AAG[1] (p.Lys1492del) rs869025522
NM_000335.4(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266
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>A (p.Asp1594Asn) rs137854607
NM_000335.4(SCN5A):c.483-1G>A rs794728846
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4853del (p.Pro1618fs)
NM_000335.4(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282
NM_000335.4(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5263_5265ATC[2] (p.Ile1757del)
NM_000335.4(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.4(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.4(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.4(SCN5A):c.5596G>T (p.Glu1866Ter) rs1559720176
NM_000335.4(SCN5A):c.559A>G (p.Thr187Ala) rs869025517
NM_000335.4(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603
NM_000335.4(SCN5A):c.5982C>A (p.Tyr1994Ter)
NM_000335.4(SCN5A):c.611+1G>A rs794728843
NM_000335.4(SCN5A):c.612-2A>G rs370438420
NM_000335.4(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_000335.4(SCN5A):c.704-2A>G rs1553705586
NM_000335.4(SCN5A):c.748C>G (p.Leu250Val) rs1559778838
NM_000335.4(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_000335.4(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_198056.2(SCN5A):c.4246-2A>G
NM_198056.2(SCN5A):c.4813+3_4813+6dup rs886037904
NM_198056.2(SCN5A):c.535C>T

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