List of variants in gene CACNA1A reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	rs16051	0.67380
NM_001127222.2(CACNA1A):c.2173-12C>T	rs16018	0.66161
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)	rs2248069	0.64010
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)	rs16030	0.17482
NM_001127222.2(CACNA1A):c.5401-14C>T	rs16042	0.16269
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)	rs16025	0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)	rs16023	0.13336
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)	rs16016	0.11927
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)	rs16006	0.08064
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	rs16027	0.07737
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)	rs16029	0.01749
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)	rs16012	0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)	rs41276894	0.01215
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)	rs16019	0.01053
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	rs16024	0.00390

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.