ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
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.4418C>G (p.Ala1473Gly) rs794727587
NM_001167623.1(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745
NM_001167625.1(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745

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