ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NC_000003.12:g.(?_38548062)_(38551558_?)del
NC_000003.12:g.(?_38575277)_(38609984_?)dup
NC_000003.12:g.(?_38585671)_(38604928_?)del
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
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.2787+1G>T rs1060501130
NM_198056.2(SCN5A):c.3956G>T (p.Gly1319Val) rs199473220
NM_198056.2(SCN5A):c.4245+1G>C rs794728879
NM_198056.2(SCN5A):c.4501C>G (p.Leu1501Val) rs199473266
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.4850_4852delTCT (p.Phe1617del) rs749697698
NM_198056.2(SCN5A):c.4859C>T (p.Thr1620Met) rs199473282
NM_198056.2(SCN5A):c.5417_5420delCTCA (p.Thr1806Serfs) rs1060501127
NM_198056.2(SCN5A):c.5464_5467delTCTG (p.Glu1823Hisfs) rs794728924
NM_198056.2(SCN5A):c.5546A>G (p.His1849Arg) rs794728898
NM_198056.2(SCN5A):c.5599G>T (p.Glu1867Ter)
NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) rs869025517
NM_198056.2(SCN5A):c.5985C>A (p.Tyr1995Ter)
NM_198056.2(SCN5A):c.611+1G>A rs794728843
NM_198056.2(SCN5A):c.656G>A (p.Arg219His) rs878855296

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