List of variants in gene CACNA1A reported as benign by Eurofins Ntd Llc (ga)

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: 22

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.1182G>A (p.Glu394=)	rs2248069	0.64010
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.2751G>C (p.Glu917Asp)	rs16022	0.11855
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	rs16027	0.07737
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)	rs16050	0.02098
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)	rs16029	0.01749
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)	rs16020	0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)	rs16026	0.00616
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)	rs16049	0.00467
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	rs41276886	0.00451
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)	rs16017	0.00329
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)	rs374664760	0.00262
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)	rs182505786	0.00153
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)	rs16009	0.00114
NM_001127222.2(CACNA1A):c.5732-6T>C	rs16043	0.00041
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)	rs199886234	0.00039
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)	rs16010	0.00030
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)	rs16021
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)	rs772989979
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	rs768950814

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.