ClinVar Miner

List of variants in gene GABRA1 reported as likely pathogenic for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu) rs2113307162
NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)
NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val)
NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.476+2T>A rs2113381723
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys) rs2113293570
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.643C>A (p.Leu215Ile) rs1554086436
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe) rs1755061747
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr) rs796052491
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) rs1060499553
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) rs796052492
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) rs1755063970
NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)
NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr) rs1755334003
NM_001127644.2(GABRA1):c.953C>T (p.Ala318Val)

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.