ClinVar Miner

List of variants in gene CACNA1C reported as pathogenic for not provided

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
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.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.2114G>A (p.Gly705Glu)
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.2578C>G (p.Arg860Gly) rs758786846
NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter)
NM_000719.7(CACNA1C):c.3912+1G>A rs1247088024
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) rs2153655235
NM_000719.7(CACNA1C):c.400_401del (p.Ile134fs)
NM_000719.7(CACNA1C):c.4527-2A>G rs2153713163
NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter)
NM_000719.7(CACNA1C):c.5897dup (p.Gln1967fs)
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745

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