ClinVar Miner

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

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Gene type:
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Total variants: 47
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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_000335.5(SCN5A):c.4243-2A>G
NM_000335.5(SCN5A):c.5263_5265ATC[2] (p.Ile1757del)
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter)
NM_001099404.1(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_001099404.1(SCN5A):c.4474_4476AAG[1] (p.Lys1493del) rs869025522
NM_001099404.1(SCN5A):c.4847_4849TCT[1] (p.Phe1617del) rs749697698
NM_198056.2(SCN5A):c.1066G>A (p.Asp356Asn) 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.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.255del (p.Phe86fs) rs727503411
NM_198056.2(SCN5A):c.2657A>C (p.His886Pro) rs199473169
NM_198056.2(SCN5A):c.2678G>A (p.Arg893His) rs199473172
NM_198056.2(SCN5A):c.2787+1G>T rs1060501130
NM_198056.2(SCN5A):c.3573G>A (p.Trp1191Ter)
NM_198056.2(SCN5A):c.3911C>T (p.Thr1304Met) rs199473603
NM_198056.2(SCN5A):c.393-1C>T rs759235726
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.3963+1G>A rs483353016
NM_198056.2(SCN5A):c.3988G>A (p.Ala1330Thr) rs199473224
NM_198056.2(SCN5A):c.4132G>A (p.Val1378Met) rs748312802
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4245+1G>C rs794728879
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
NM_198056.2(SCN5A):c.4519_4527del (p.Gln1507_Pro1509del) rs397514251
NM_198056.2(SCN5A):c.4783G>A (p.Asp1595Asn) rs137854607
NM_198056.2(SCN5A):c.4813+3_4813+6dup rs886037904
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
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.5417_5420del (p.Thr1806fs) rs1060501127
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.5985C>A (p.Tyr1995Ter) rs794728941
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.612-2A>G rs370438420
NM_198056.2(SCN5A):c.656G>A (p.Arg219His) rs878855296
NM_198056.2(SCN5A):c.704-2A>G rs1553705586
NM_198056.2(SCN5A):c.748C>G (p.Leu250Val) rs1559778838
NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) rs777689378

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