ClinVar Miner

List of variants studied for Brugada syndrome by CSER _CC_NCGL, University of Washington

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Total variants: 16
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HGVS dbSNP
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_005477.3(HCN4):c.1725G>C (p.Glu575Asp) rs764493888
NM_198056.2(SCN5A):c.5851G>T (p.Val1951Leu) rs41315493
NM_198056.2(SCN5A):c.5903T>G (p.Ile1968Ser) rs199473639
NM_198056.2(SCN5A):c.612-2A>G rs370438420
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile) rs149793143
NM_201596.3(CACNB2):c.121-1G>T rs875989812
NM_201596.3(CACNB2):c.121-2A>T rs750396182
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) rs202152674
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) rs775466397
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041
NM_201596.3(CACNB2):c.804+665G>A rs373932682

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