ClinVar Miner

List of variants studied for Brugada syndrome by OMIM

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_001037.5(SCN1B):c.448+88G>A rs267607028
NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg) rs149344567
NM_005472.4(KCNE3):c.296G>A (p.Arg99His) rs121908441
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) rs200546024
NM_015141.3(GPD1L):c.247G>A (p.Glu83Lys) rs72552292
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015141.3(GPD1L):c.817C>T (p.Arg273Cys) rs72552294
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_018400.3(SCN3B):c.17G>A (p.Arg6Lys) rs587777558
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_018400.3(SCN3B):c.389C>T (p.Ala130Val) rs587777556
NM_018400.3(SCN3B):c.482T>C (p.Met161Thr) rs587777557
NM_198056.2(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_198056.2(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_198056.2(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.3784G>A (p.Gly1262Ser) rs137854616
NM_198056.2(SCN5A):c.4190del (p.Lys1397fs) rs397514446
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) rs137854612
NM_198056.2(SCN5A):c.4262G>A (p.Trp1421Ter) rs137854620
NM_198056.2(SCN5A):c.4534C>T (p.Arg1512Trp) rs137854602
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.5383T>C (p.Tyr1795His) rs137854615
NM_198056.2(SCN5A):c.5385_5387dup (p.Glu1796_Ile1797insAsp) rs397514449
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.611+3_611+4dup rs397514252
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]
NM_201590.3(CACNB2):c.1442C>T (p.Ser481Leu) rs121917812
NM_201590.3(CACNB2):c.32C>T (p.Thr11Ile) rs587777742

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