ClinVar Miner

List of variants in gene GABRA1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu) rs751571034 0.00003
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) rs1057518405 0.00003
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser) rs1229633395 0.00002
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) rs1755340949 0.00001
NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala) rs1429109541 0.00001
NM_001127644.2(GABRA1):c.265A>G (p.Ile89Val) rs146428720 0.00001
NM_001127644.2(GABRA1):c.29G>C (p.Cys10Ser) rs1476709358 0.00001
NM_001127644.2(GABRA1):c.-16+5G>A
NM_001127644.2(GABRA1):c.-260T>C rs960154706
NM_001127644.2(GABRA1):c.1018A>G (p.Arg340Gly) rs2113464981
NM_001127644.2(GABRA1):c.1075G>C (p.Asp359His) rs2113469368
NM_001127644.2(GABRA1):c.1093A>G (p.Asn365Asp) rs1469266875
NM_001127644.2(GABRA1):c.1097A>G (p.Asn366Ser)
NM_001127644.2(GABRA1):c.1103dup (p.Tyr368Ter) rs2113469544
NM_001127644.2(GABRA1):c.1104C>A (p.Tyr368Ter)
NM_001127644.2(GABRA1):c.1106C>T (p.Ala369Val) rs2532295704
NM_001127644.2(GABRA1):c.1143G>C (p.Arg381Ser)
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.1238T>G (p.Phe413Cys) rs2532296375
NM_001127644.2(GABRA1):c.1249A>T (p.Ser417Cys) rs2532296454
NM_001127644.2(GABRA1):c.1298T>A (p.Ile433Asn) rs2532296668
NM_001127644.2(GABRA1):c.1322C>T (p.Thr441Met) rs145217327
NM_001127644.2(GABRA1):c.1342C>G (p.Gln448Glu) rs2113470665
NM_001127644.2(GABRA1):c.1357delinsCCCC (p.Thr453delinsProPro) rs2532296911
NM_001127644.2(GABRA1):c.1371G>T (p.Ter457Tyr) rs2113470834
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.187+5G>A rs368360804
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys) rs1753807484
NM_001127644.2(GABRA1):c.191G>T (p.Arg64Leu) rs1753807587
NM_001127644.2(GABRA1):c.202G>A (p.Val68Met)
NM_001127644.2(GABRA1):c.220G>A (p.Val74Ile) rs2532225533
NM_001127644.2(GABRA1):c.231C>A (p.Phe77Leu)
NM_001127644.2(GABRA1):c.238G>A (p.Val80Ile)
NM_001127644.2(GABRA1):c.256-5C>G rs2532239053
NM_001127644.2(GABRA1):c.280C>A (p.Arg94Ser) rs1457242041
NM_001127644.2(GABRA1):c.280C>T (p.Arg94Cys) rs1457242041
NM_001127644.2(GABRA1):c.289T>A (p.Trp97Arg) rs2532239153
NM_001127644.2(GABRA1):c.320C>A (p.Pro107His) rs2532239235
NM_001127644.2(GABRA1):c.41G>C (p.Trp14Ser) rs2532198229
NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys) rs2113293899
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127644.2(GABRA1):c.43A>T (p.Ile15Phe)
NM_001127644.2(GABRA1):c.454G>A (p.Gly152Ser) rs2113381632
NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile) rs1754206052
NM_001127644.2(GABRA1):c.476G>C (p.Arg159Thr) rs2113381715
NM_001127644.2(GABRA1):c.482C>A (p.Thr161Lys) rs2532244431
NM_001127644.2(GABRA1):c.484G>A (p.Val162Met) rs796052499
NM_001127644.2(GABRA1):c.488G>A (p.Arg163Lys) rs2113388952
NM_001127644.2(GABRA1):c.495_503delinsCAGTGAGA (p.Glu165fs) rs2532244467
NM_001127644.2(GABRA1):c.53T>C (p.Leu18Pro) rs779065852
NM_001127644.2(GABRA1):c.545del (p.Leu182fs) rs2532244616
NM_001127644.2(GABRA1):c.565T>C (p.Tyr189His) rs2532261663
NM_001127644.2(GABRA1):c.566A>T (p.Tyr189Phe) rs2113414352
NM_001127644.2(GABRA1):c.58A>C (p.Thr20Pro) rs2113294023
NM_001127644.2(GABRA1):c.662T>C (p.Leu221Pro) rs2532261944
NM_001127644.2(GABRA1):c.667C>T (p.Gln223Ter) rs2113414785
NM_001127644.2(GABRA1):c.718A>T (p.Met240Leu) rs2532280098
NM_001127644.2(GABRA1):c.772T>C (p.Tyr258His)
NM_001127644.2(GABRA1):c.781T>C (p.Cys261Arg) rs2113446513
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter) rs2532280401
NM_001127644.2(GABRA1):c.790A>G (p.Thr264Ala) rs2532280418
NM_001127644.2(GABRA1):c.811T>C (p.Ser271Pro) rs2113446651
NM_001127644.2(GABRA1):c.818G>T (p.Trp273Leu)
NM_001127644.2(GABRA1):c.832T>C (p.Ser278Pro) rs2532280600
NM_001127644.2(GABRA1):c.856G>C (p.Gly286Arg)
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001127644.2(GABRA1):c.895A>C (p.Ser299Arg) rs2532292023
NM_001127644.2(GABRA1):c.914C>A (p.Pro305His)
NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala) rs1581220195
NM_001127644.2(GABRA1):c.949A>C (p.Ile317Leu) rs796052498
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.982C>G (p.Leu328Val) rs2532292275

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.