ClinVar Miner

List of variants studied for Brugada syndrome by OMIM

Included ClinVar conditions (45):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) rs200546024 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) rs121908441 0.00007
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_001037.5(SCN1B):c.448+88G>A rs267607028 0.00001
NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val) rs587777556 0.00001
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000335.5(SCN5A):c.611+3_611+4dup rs397514252
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_001040151.2(SCN3B):c.17G>A (p.Arg6Lys) rs587777558
NM_001040151.2(SCN3B):c.482T>C (p.Met161Thr) rs587777557
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]
NM_201590.3(CACNB2):c.32C>T (p.Thr11Ile) rs587777742
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812

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