ClinVar Miner

List of variants in gene CACNB2 studied for Brugada syndrome

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.214-61250G>A rs10828545 0.40477
NM_201596.3(CACNB2):c.*16_*17insC rs753335762 0.00556
NM_201596.3(CACNB2):c.214-61251C>A rs117558767 0.00414
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_201596.3(CACNB2):c.*36del rs752637408 0.00070
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.*758_*761dup rs780734976 0.00022
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) rs202152674 0.00019
NM_201596.3(CACNB2):c.*621_*622insCA rs564407056 0.00016
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.1433G>A (p.Arg478His) rs781646326 0.00004
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) rs775466397 0.00003
NM_201596.3(CACNB2):c.120+360G>C rs1064795457 0.00001
NM_201596.3(CACNB2):c.*10_*11del rs886046886
NM_201596.3(CACNB2):c.*10del rs367928065
NM_201596.3(CACNB2):c.*124_*127dup rs886046891
NM_201596.3(CACNB2):c.*15dup rs886046887
NM_201596.3(CACNB2):c.*186_*189dup rs886046892
NM_201596.3(CACNB2):c.*41_*45dup rs758274878
NM_201596.3(CACNB2):c.*607_*608insAT rs886046898
NM_201596.3(CACNB2):c.*608_*609delinsAT rs886046899
NM_201596.3(CACNB2):c.*610AT[4] rs34551674
NM_201596.3(CACNB2):c.*610AT[8] rs34551674
NM_201596.3(CACNB2):c.*694del rs886046902
NM_201596.3(CACNB2):c.*786_*789dup rs1554843746
NM_201596.3(CACNB2):c.*790CTTGA[3] rs528559406
NM_201596.3(CACNB2):c.*835AAGT[3] rs547804393
NM_201596.3(CACNB2):c.121-2A>T rs750396182

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