ClinVar Miner

List of variants in gene CACNA1A reported as benign for cerebellar degeneration

Included ClinVar conditions (276):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99241
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98533
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97848
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093 0.89893
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81856
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.77371
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.67341
NM_001127222.2(CACNA1A):c.1198+48G>A rs2306348 0.64779
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59750
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.23853
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.01946
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6303+94del rs3217380

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.