ClinVar Miner

List of variants in gene CACNA1A reported as pathogenic for Inborn genetic diseases

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Total variants: 7
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NM_001127221.1(CACNA1A):c.1915C>T (p.Gln639Ter) rs1555758842
NM_001127221.1(CACNA1A):c.2788_2789insT (p.His930fs) rs1555756091
NM_001127221.1(CACNA1A):c.2809C>T (p.Gln937Ter) rs1318353774
NM_001127221.1(CACNA1A):c.3106dup (p.Ser1036fs) rs1131691712
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127221.1(CACNA1A):c.6371del (p.Arg2124fs) rs1555730902

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