ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.2657A>C (p.His886Pro) rs199473169 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys) rs749864465 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met) rs748312802 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu) rs1369632373 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala) rs869025517 0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser) rs794728852 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001037.5(SCN1B):c.448+88G>A rs267607028 0.00001
NC_000003.11:g.(?_38591792)_(38593069_?)del
NC_000003.11:g.(?_38591812)_(38593069_?)del
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_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr) rs199473565
NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp) rs2062008854
NM_000335.5(SCN5A):c.1234del (p.Val412fs)
NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter) rs2125935492
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser)
NM_000335.5(SCN5A):c.2777G>A (p.Gly926Asp) rs2061653516
NM_000335.5(SCN5A):c.2787+1G>T rs1060501130
NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter) rs869025520
NM_000335.5(SCN5A):c.3388-1G>C
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly) rs2125849528
NM_000335.5(SCN5A):c.3898del (p.Ser1300fs) rs2061270021
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys) rs1403211358
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.4009CTC[1] (p.Leu1338del) rs1559732656
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=) rs794728935
NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser) rs1559729142
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile)
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser) rs2061147191
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4853del (p.Pro1618fs) rs1575706847
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5248TTC[1] (p.Phe1751del) rs2125826148
NM_000335.5(SCN5A):c.5263ATC[2] (p.Ile1757del) rs1575705549
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.5(SCN5A):c.5684_5685del (p.Leu1895fs) rs770059377
NM_000335.5(SCN5A):c.703+1G>C rs2125914209
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000335.5(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter)
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala) rs2099444326
NM_001037.5(SCN1B):c.40+1_40+50del rs2064208734
NM_001037.5(SCN1B):c.448+201C>T rs2151746638
NM_001037.5(SCN1B):c.449-1G>T
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037.5(SCN1B):c.591-12_606del
NM_001160160.2(SCN5A):c.4714+95GGGT[3]
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_005477.3(HCN4):c.1439G>T (p.Gly480Val) rs1060500103
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.1442A>G (p.Tyr481Cys) rs2151217044
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_005477.3(HCN4):c.1471G>C (p.Asp491His) rs1060500107
NM_005477.3(HCN4):c.2143+1G>A rs1555475434
NM_005477.3(HCN4):c.2515_2518dup (p.Ala840fs)
NM_006514.4(SCN10A):c.4201_4203del (p.Phe1401del) rs1559414131

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