ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP
NC_000003.11:g.(?_38616768)_(38651475_?)dup
NC_000003.12:g.(?_38548062)_(38551558_?)del
NC_000003.12:g.(?_38585671)_(38604928_?)del
NC_000003.12:g.(?_38609714)_(38609984_?)del
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.255del (p.Phe86fs) rs727503411
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.4471_4473AAG[1] (p.Lys1492del) rs869025522
NM_000335.4(SCN5A):c.4853del (p.Pro1618fs) rs1575706847
NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp)
NM_000335.5(SCN5A):c.2263-2A>G
NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro)
NM_000335.5(SCN5A):c.3509-1G>A
NM_000335.5(SCN5A):c.3898del (p.Ser1300fs)
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.5(SCN5A):c.393-1C>T rs759235726
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu)
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.5263_5265ATC[2] (p.Ile1757del) rs1575705549
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.589G>C (p.Asp197His)
NM_000335.5(SCN5A):c.612-2A>G rs370438420
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001099404.1(SCN5A):c.4132G>A (p.Val1378Met) rs748312802
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_005472.4(KCNE3):c.10A>G (p.Thr4Ala) rs200856070
NM_006514.3(SCN10A):c.4201_4203del (p.Phe1401del) rs1559414131
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_198056.2(SCN5A):c.1066G>T (p.Asp356Tyr) rs199473565
NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_198056.2(SCN5A):c.1141-1G>A rs1377226524
NM_198056.2(SCN5A):c.1338+2T>A rs786204839
NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_198056.2(SCN5A):c.2204C>A (p.Ala735Glu) rs137854611
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_198056.2(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_198056.2(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_198056.2(SCN5A):c.2657A>C (p.His886Pro) rs199473169
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.2787+1G>T rs1060501130
NM_198056.2(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
NM_198056.2(SCN5A):c.3285G>A (p.Trp1095Ter) rs759924541
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.3573G>A (p.Trp1191Ter) rs1237724419
NM_198056.2(SCN5A):c.3995C>G (p.Pro1332Arg) rs199473225
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4245+1G>C rs794728879
NM_198056.2(SCN5A):c.4312C>T (p.Pro1438Ser) rs1559729142
NM_198056.2(SCN5A):c.4437+5G>A rs1057520531
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_198056.2(SCN5A):c.4813+3_4813+6dup
NM_198056.2(SCN5A):c.4850_4852del rs749697698
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
NM_198056.2(SCN5A):c.4912C>T (p.Arg1638Ter) rs761505217
NM_198056.2(SCN5A):c.4981G>A (p.Gly1661Arg) rs199473292
NM_198056.2(SCN5A):c.5129C>T (p.Ser1710Leu) rs137854604
NM_198056.2(SCN5A):c.5356_5357del (p.Leu1786fs) rs886037903
NM_198056.2(SCN5A):c.5546A>G (p.His1849Arg) rs794728898
NM_198056.2(SCN5A):c.5599G>T (p.Glu1867Ter) rs1559720176
NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) rs869025517
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.590A>G (p.Asp197Gly) rs1559370502
NM_198056.2(SCN5A):c.6046G>A (p.Val2016Met) rs762981322
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_198056.2(SCN5A):c.748C>G (p.Leu250Val) rs1559778838
NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) rs199473082

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