ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862866 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00008
NM_001127222.2(CACNA1A):c.1080A>C (p.Ser360=) rs920116858 0.00004
NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=) rs772301380 0.00004
NM_001127222.2(CACNA1A):c.1071T>C (p.Gly357=) rs1240852774 0.00001
NM_001127222.2(CACNA1A):c.979-7C>T rs1375150525 0.00001
NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=)
NM_001127222.2(CACNA1A):c.1026C>G (p.Pro342=) rs1412349338
NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=)
NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=)
NM_001127222.2(CACNA1A):c.1082+17C>T rs992037503
NM_001127222.2(CACNA1A):c.1082+19C>A
NM_001127222.2(CACNA1A):c.1082+20C>T
NM_001127222.2(CACNA1A):c.979-13T>C
NM_001127222.2(CACNA1A):c.979-19C>G rs2145140905
NM_001127222.2(CACNA1A):c.979-5T>A rs2145140730
NM_001127222.2(CACNA1A):c.979-6C>G rs773529741
NM_001127222.2(CACNA1A):c.979-8C>T
NM_001127222.2(CACNA1A):c.979-9A>C
NM_001127222.2(CACNA1A):c.990C>G (p.Ala330=) rs1555767932

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.