ClinVar Miner

List of variants in gene GABRA1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_001127644.2(GABRA1):c.1015A>G (p.Lys339Glu)
NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) rs879253748
NM_001127644.2(GABRA1):c.268G>C (p.Asp90His) rs796052488
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.752G>A (p.Gly251Asp) rs1064793933
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val) rs1561584736
NM_001127644.2(GABRA1):c.788T>A (p.Met263Lys) rs796052491
NM_001127644.2(GABRA1):c.859G>T (p.Val287Leu) rs796052493
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.881C>T (p.Thr294Ile) rs796052495
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val)

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.