ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic by GeneDx

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Total variants: 29
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1363C>T (p.Arg455Ter) rs886039668
NM_001127221.1(CACNA1A):c.2042_2043del (p.Gln681fs) rs1064794262
NM_001127221.1(CACNA1A):c.2130G>T (p.Leu710Phe) rs886041654
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.2542C>T (p.Gln848Ter) rs1420078244
NM_001127221.1(CACNA1A):c.2847_2856del (p.Ala952fs) rs1555755977
NM_001127221.1(CACNA1A):c.2906del (p.Gly969fs) rs1555755926
NM_001127221.1(CACNA1A):c.2961_2962dup (p.Arg988fs) rs1555755878
NM_001127221.1(CACNA1A):c.3106dup (p.Ser1036fs) rs1131691712
NM_001127221.1(CACNA1A):c.3157C>T (p.Gln1053Ter) rs1568495944
NM_001127221.1(CACNA1A):c.3535dup (p.Leu1179fs) rs757953057
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127221.1(CACNA1A):c.4058C>T (p.Pro1353Leu) rs1064794808
NM_001127221.1(CACNA1A):c.4070T>G (p.Ile1357Ser) rs886041541
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4099T>A (p.Phe1367Ile) rs1057520749
NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) rs886041909
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4177G>C (p.Val1393Leu) rs794727411
NM_001127221.1(CACNA1A):c.4497_4499CTT[2] (p.Phe1502del) rs886041279
NM_001127221.1(CACNA1A):c.4504_4506del (p.Phe1502del) rs1131691374
NM_001127221.1(CACNA1A):c.4900G>A (p.Asp1634Asn) rs1555740805
NM_001127221.1(CACNA1A):c.4990C>T (p.Arg1664Ter) rs1555738369
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127221.1(CACNA1A):c.5396C>T (p.Ser1799Leu) rs1064794261
NM_001127221.1(CACNA1A):c.6158dup (p.Thr2054fs) rs1158454977
NM_001127221.1(CACNA1A):c.6400C>T (p.Arg2134Ter) rs1555730878
NM_001127221.1(CACNA1A):c.6492dup (p.Glu2165Ter) rs1555730801

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