ClinVar Miner

List of variants in gene CACNA1C reported as likely pathogenic for Timothy syndrome

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Total variants: 3
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NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056

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