ClinVar Miner

List of variants in gene GABRA1 reported as benign for Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020 0.62825
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_001127644.2(GABRA1):c.857-18T>C rs78782356 0.05705
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.255+12C>T rs144727170 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001127644.2(GABRA1):c.74+19A>G rs370522819 0.00020
NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=) rs187648029 0.00015
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 0.00006
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=) rs79593368 0.00002
NM_001127644.2(GABRA1):c.699T>C (p.Ser233=) rs756876744 0.00002
NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly) rs1755418006 0.00001
NM_001127644.2(GABRA1):c.422T>G (p.Met141Arg) rs1235304350 0.00001
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479 0.00001
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) rs764666718 0.00001
NM_001127644.2(GABRA1):c.857-3C>T rs1323709924 0.00001
NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg) rs111452646 0.00001
NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu) rs80337021
NM_001127644.2(GABRA1):c.1099A>T (p.Thr367Ser) rs2113469507
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu) rs1755409878
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) rs796052487
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.235C>A (p.Pro79Thr) rs2113354212
NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg) rs1217531305
NM_001127644.2(GABRA1):c.322A>G (p.Met108Val) rs2113381084
NM_001127644.2(GABRA1):c.725C>T (p.Thr242Ile) rs759786297
NM_001127644.2(GABRA1):c.74+16del
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.75-4dup rs563768487
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127644.2(GABRA1):c.857-9dup rs3214859

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.