ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome by CSER_CC_NCGL; University of Washington Medical Center

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000335.4(SCN5A):c.5900T>G (p.Ile1967Ser) rs199473639
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_005477.3(HCN4):c.1725G>C (p.Glu575Asp) rs764493888
NM_201590.3(CACNB2):c.1018G>A (p.Val340Ile) rs149793143
NM_201590.3(CACNB2):c.1349C>T (p.Thr450Ile) rs143326262
NM_201590.3(CACNB2):c.1429C>T (p.Arg477Cys) rs202152674
NM_201590.3(CACNB2):c.1614C>A (p.Asp538Glu) rs144182966
NM_201590.3(CACNB2):c.382A>G (p.Met128Val) rs775466397
NM_201590.3(CACNB2):c.428C>T (p.Ser143Phe) rs150528041
NM_201590.3(CACNB2):c.642+665G>A rs373932682
NM_201596.3(CACNB2):c.121-1G>T rs875989812
NM_201596.3(CACNB2):c.121-2A>T rs750396182

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