List of variants in gene combination CACNA1A, LOC126862864 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)	rs201200430	0.00034
NM_001127222.2(CACNA1A):c.4090-3C>G	rs1555745158
NM_001127222.2(CACNA1A):c.4188G>C (p.Gln1396His)	rs1402642604
NM_001127222.2(CACNA1A):c.4247G>T (p.Cys1416Phe)	rs2512759150
NM_001127222.2(CACNA1A):c.4250+1G>C	rs2056733058
NM_001127222.2(CACNA1A):c.4250+2T>G	rs2512759124

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.