ClinVar Miner

List of variants reported as uncertain significance for Brugada syndrome by CSER _CC_NCGL, University of Washington

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_201596.3(CACNB2):c.121-1G>T rs875989812 0.00062
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) rs202152674 0.00019
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_201596.3(CACNB2):c.804+665G>A rs373932682 0.00007
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile) rs149793143 0.00006
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) rs775466397 0.00003
NM_000335.5(SCN5A):c.5900T>G (p.Ile1967Ser) rs199473639 0.00001
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_005477.3(HCN4):c.1725G>C (p.Glu575Asp) rs764493888
NM_201596.3(CACNB2):c.121-2A>T rs750396182

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