ClinVar Miner

List of variants in gene CACNB2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.*17T>C rs58830289 0.15250
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638 0.01090
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_201596.3(CACNB2):c.993G>A (p.Ser331=) rs76956014 0.00852
NM_201596.3(CACNB2):c.*16_*17insC rs753335762 0.00556
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys) rs77141223 0.00115
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_201596.3(CACNB2):c.1054+18G>A rs192538011 0.00039
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr) rs561197163 0.00029
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948 0.00014
NM_201596.3(CACNB2):c.306G>A (p.Gln102=) rs571930944 0.00013
NM_201596.3(CACNB2):c.1140T>C (p.His380=) rs151199943 0.00010
NM_201596.3(CACNB2):c.1206+3A>T rs200174877 0.00006
NM_201596.3(CACNB2):c.1260C>T (p.Asn420=) rs931370978 0.00002
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp) rs545095722 0.00001
NM_201596.3(CACNB2):c.510C>T (p.Ile170=) rs760606646 0.00001
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp) rs137886839
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) rs766377211
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu) rs142639223
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro) rs577739840
NM_201596.3(CACNB2):c.1933A>T (p.Lys645Ter)
NM_201596.3(CACNB2):c.622T>C (p.Leu208=) rs538160664

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