ClinVar Miner

List of variants in gene CACNA1C reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.