ClinVar Miner

List of variants in gene CACNA1A reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000068.4(CACNA1A):c.2322_2349dup (p.Glu784delinsGlnValArgValGlyAlaAlaAspGlnTer) rs1057520154
NM_000068.4(CACNA1A):c.6674_6676del (p.His2225del) rs749638821
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.6657_6659del rs759331923
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_023035.3(CACNA1A):c.3052G>A (p.Glu1018Lys) rs16024

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.