ClinVar Miner

List of variants in gene CACNA1C reported as pathogenic

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Total variants: 13
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HGVS dbSNP
GRCh38/hg38 12p13.33(chr12:2686912-2733167)x1
NM_000719.7(CACNA1C):c.1114-304G>A rs786205745
NM_000719.7(CACNA1C):c.1114-304G>C rs786205745
NM_000719.7(CACNA1C):c.1114-316G>A rs587782933
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly) rs758786846
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587

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