ClinVar Miner

List of variants in gene CACNA1C reported by OMIM

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
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.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1697T>C (p.Leu566Pro)
NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp) rs1568469857
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) rs1057518994
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe)
NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu) rs1555836187
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg) rs750835733
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val)
NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met) rs1569139160

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