ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862866 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1038C>T (p.Ile346=) rs527246699 0.00002
NM_001127222.2(CACNA1A):c.1025C>T (p.Pro342Leu)
NM_001127222.2(CACNA1A):c.1027C>T (p.Leu343Phe) rs2145140491
NM_001127222.2(CACNA1A):c.1030A>C (p.Ile344Leu) rs2058556893
NM_001127222.2(CACNA1A):c.1035C>A (p.Ile345=) rs779827819
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.1060C>G (p.Leu354Val) rs1555767914
NM_001127222.2(CACNA1A):c.1061T>A (p.Leu354His) rs2145140311
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro) rs1568546568
NM_001127222.2(CACNA1A):c.980G>C (p.Ser327Thr)
NM_001127222.2(CACNA1A):c.984C>G (p.Asn328Lys)
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His) rs1353041373

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.