ClinVar Miner

List of variants in gene CACNA1A reported by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp) rs367882437 0.00007
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro) rs762288499 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu) rs748935741 0.00001
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp) rs771030765 0.00001
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.191C>A (p.Pro64His) rs2145192387
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.368A>T (p.Asp123Val) rs1555789420
NM_001127222.2(CACNA1A):c.3692+1G>T rs1315533129
NM_001127222.2(CACNA1A):c.5529-1263G>T rs770936656

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.