ClinVar Miner

List of variants studied for Brugada syndrome by GeneReviews

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000335.4(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.4(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000335.4(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282
NM_000335.4(SCN5A):c.845G>A (p.Arg282His) rs199473083
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_015141.3(GPD1L):c.247G>A (p.Glu83Lys) rs72552292
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_201590.3(CACNB2):c.1442C>T (p.Ser481Leu) rs121917812

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