ClinVar Miner

List of variants studied for Brugada syndrome by Biesecker Lab/Clinical Genomics Section,National Institutes of Health

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_005472.4(KCNE3):c.296G>A (p.Arg99His) rs121908441
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_172057.2(KCNH2):c.1597G>A (p.Gly533Ser) rs41314354
NM_198056.2(SCN5A):c.1652C>T (p.Ala551Val) rs201641342
NM_198056.2(SCN5A):c.1940C>T (p.Ala647Val) rs185638763
NM_198056.2(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127
NM_198056.2(SCN5A):c.5494C>G (p.Gln1832Glu) rs199473320
NM_198056.2(SCN5A):c.5851G>T (p.Val1951Leu) rs41315493
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117

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