ClinVar Miner

List of variants reported as likely pathogenic for Brugada syndrome by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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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_000335.5(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.393-1C>T rs759235726
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.589G>C (p.Asp197His)
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
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.2632C>T (p.Arg878Cys) rs199473168
NM_198056.2(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171
NM_198056.2(SCN5A):c.2787+1G>T rs1060501130
NM_198056.2(SCN5A):c.3995C>G (p.Pro1332Arg) rs199473225
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.5129C>T (p.Ser1710Leu) rs137854604
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.590A>G (p.Asp197Gly) rs1559370502
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

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