ClinVar Miner

List of variants in gene CACNA1C reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP
NM_000719.6(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.6(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.6(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp)
NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu)
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met)
NM_001129835.1(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733

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