ClinVar Miner

List of variants in gene GABRA1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.704-134C>T rs1026447 0.81211
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020 0.62825
NM_001127644.2(GABRA1):c.560-261A>G rs4921199 0.44621
NM_001127644.2(GABRA1):c.559+80G>A rs4260711 0.44549
NM_000806.5(GABRA1):c.-441A>G rs11576001 0.29650
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_001127644.2(GABRA1):c.703+45T>G rs11135172 0.19182
NM_001127644.2(GABRA1):c.256-201A>T rs72819308 0.19071
NM_001127644.2(GABRA1):c.188-42C>T rs41304896 0.18716
NM_001127644.2(GABRA1):c.-142A>G rs12658835 0.18269
NM_001127644.2(GABRA1):c.856+76A>G rs10051659 0.17589
NM_001127644.2(GABRA1):c.256-134C>T rs10058095 0.17508
NM_001127644.2(GABRA1):c.256-203A>G rs10065822 0.17484
NM_001127644.2(GABRA1):c.255+285C>T rs56873080 0.14186
NM_001127644.2(GABRA1):c.-31C>T rs4608967 0.13210
NM_001127644.2(GABRA1):c.256-221A>G rs78679936 0.11373
NM_001127644.2(GABRA1):c.703+295A>G rs12658807 0.06990
NM_001127644.2(GABRA1):c.1060-245C>T rs4144483 0.05930
NM_001127644.2(GABRA1):c.857-18T>C rs78782356 0.05705
NM_001127644.2(GABRA1):c.-16+851T>A rs10079622 0.05181
NM_001127644.2(GABRA1):c.256-193T>A rs11745341 0.05021
NM_001127644.2(GABRA1):c.187+186A>T rs60669065 0.04731
NM_001127644.2(GABRA1):c.-53C>A rs75583203 0.01969
NM_001127644.2(GABRA1):c.704-247T>C rs41275317 0.01438
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001127644.2(GABRA1):c.559+155A>G rs73314914 0.00605
NM_001127644.2(GABRA1):c.-16+8C>A rs138671319 0.00544
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.1059+120C>T rs181429589 0.00427
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
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.441G>T (p.Arg147=) rs190024862 0.00028
NM_001127644.2(GABRA1):c.-258T>C rs183280626 0.00026
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001127644.2(GABRA1):c.886T>C (p.Leu296=) rs149677108 0.00021
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.231C>T (p.Phe77=) rs566224462 0.00015
NM_001127644.2(GABRA1):c.704-17T>G rs115043829 0.00015
NM_001127644.2(GABRA1):c.-15-25G>T rs200321984 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_001127644.2(GABRA1):c.-252T>C rs766490931 0.00011
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00011
NM_001127644.2(GABRA1):c.*2T>A rs762836110 0.00010
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=) rs139467768 0.00007
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.1284G>A (p.Pro428=) rs74873701 0.00004
NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile) rs756553428 0.00004
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=) rs777911034 0.00004
NM_001127644.2(GABRA1):c.-263A>G rs763127240 0.00003
NM_001127644.2(GABRA1):c.834T>C (p.Ser278=) rs749956729 0.00003
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001127644.2(GABRA1):c.-266G>T rs972105612 0.00002
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu) rs751571034 0.00002
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=) rs79593368 0.00002
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser) rs1229633395 0.00002
NM_001127644.2(GABRA1):c.198C>T (p.Thr66=) rs770208588 0.00002
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 0.00002
NM_001127644.2(GABRA1):c.699T>C (p.Ser233=) rs756876744 0.00002
NM_001127644.2(GABRA1):c.-15-23T>A rs534129599 0.00001
NM_001127644.2(GABRA1):c.-15-9A>T rs770530140 0.00001
NM_001127644.2(GABRA1):c.-16+18C>G rs978912528 0.00001
NM_001127644.2(GABRA1):c.-241A>T rs1402044979 0.00001
NM_001127644.2(GABRA1):c.-243A>G rs1554083390 0.00001
NM_001127644.2(GABRA1):c.-24G>C rs981975825 0.00001
NM_001127644.2(GABRA1):c.-257T>C rs587780946 0.00001
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) rs1755340949 0.00001
NM_001127644.2(GABRA1):c.1060-15T>C rs773638322 0.00001
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=) rs541335259 0.00001
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) rs1057518405 0.00001
NM_001127644.2(GABRA1):c.1299C>A (p.Ile433=) rs1340729708 0.00001
NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala) rs1429109541 0.00001
NM_001127644.2(GABRA1):c.378A>G (p.Thr126=) rs756299135 0.00001
NM_001127644.2(GABRA1):c.478C>T (p.Leu160=) rs1269683161 0.00001
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479 0.00001
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=) rs779666888 0.00001
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=) rs764666718 0.00001
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=) rs374399356 0.00001
NM_000806.5(GABRA1):c.-248+10C>T rs1050530276
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.-15-20C>T rs555933670
NM_001127644.2(GABRA1):c.-15-327G>C rs181252817
NM_001127644.2(GABRA1):c.-16+112GA[8] rs33991515
NM_001127644.2(GABRA1):c.-16+137GAGC[5] rs200619744
NM_001127644.2(GABRA1):c.-16+15G>A rs1581172079
NM_001127644.2(GABRA1):c.-19T>C rs1057521883
NM_001127644.2(GABRA1):c.-19_-18del rs1064794832
NM_001127644.2(GABRA1):c.-247C>T rs1043312870
NM_001127644.2(GABRA1):c.-260T>C rs960154706
NM_001127644.2(GABRA1):c.1018A>G (p.Arg340Gly) rs2113464981
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1030T>G (p.Trp344Gly)
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.1103dup (p.Tyr368Ter) rs2113469544
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) rs796052487
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)
NM_001127644.2(GABRA1):c.1298T>A (p.Ile433Asn)
NM_001127644.2(GABRA1):c.1342C>G (p.Gln448Glu) rs2113470665
NM_001127644.2(GABRA1):c.1357delinsCCCC (p.Thr453delinsProPro)
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+16G>A rs1554084016
NM_001127644.2(GABRA1):c.187+5G>A rs368360804
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys) rs1753807484
NM_001127644.2(GABRA1):c.220G>A (p.Val74Ile)
NM_001127644.2(GABRA1):c.255+13T>C rs1554084940
NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.256-5C>G
NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=) rs1057523723
NM_001127644.2(GABRA1):c.265A>G (p.Ile89Val) rs146428720
NM_001127644.2(GABRA1):c.268G>C (p.Asp90His) rs796052488
NM_001127644.2(GABRA1):c.280C>A (p.Arg94Ser) rs1457242041
NM_001127644.2(GABRA1):c.280C>T (p.Arg94Cys)
NM_001127644.2(GABRA1):c.289T>A (p.Trp97Arg)
NM_001127644.2(GABRA1):c.320C>A (p.Pro107His)
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) rs1754199170
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.414C>T (p.Asn138=) rs1057522080
NM_001127644.2(GABRA1):c.41G>C (p.Trp14Ser)
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127644.2(GABRA1):c.453T>C (p.Asp151=) rs1308271547
NM_001127644.2(GABRA1):c.454G>A (p.Gly152Ser) rs2113381632
NM_001127644.2(GABRA1):c.45C>T (p.Ile15=) rs759784427
NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile) rs1754206052
NM_001127644.2(GABRA1):c.476+19C>T rs1057522828
NM_001127644.2(GABRA1):c.476G>C (p.Arg159Thr) rs2113381715
NM_001127644.2(GABRA1):c.477-6C>T rs1057522459
NM_001127644.2(GABRA1):c.482C>A (p.Thr161Lys)
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)
NM_001127644.2(GABRA1):c.53T>C (p.Leu18Pro) rs779065852
NM_001127644.2(GABRA1):c.545del (p.Leu182fs)
NM_001127644.2(GABRA1):c.559+19A>G rs1554085838
NM_001127644.2(GABRA1):c.560-169del rs11317877
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.610C>T (p.Arg204Cys)
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.662T>C (p.Leu221Pro)
NM_001127644.2(GABRA1):c.667C>T (p.Gln223Ter) rs2113414785
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.703+9G>T rs768499906
NM_001127644.2(GABRA1):c.718A>T (p.Met240Leu)
NM_001127644.2(GABRA1):c.729T>C (p.His243=) rs772218052
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.75-315del rs34288369
NM_001127644.2(GABRA1):c.75-4dup rs563768487
NM_001127644.2(GABRA1):c.752G>A (p.Gly251Asp) rs1064793933
NM_001127644.2(GABRA1):c.781T>C (p.Cys261Arg) rs2113446513
NM_001127644.2(GABRA1):c.788T>A (p.Met263Lys) rs796052491
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.811T>C (p.Ser271Pro) rs2113446651
NM_001127644.2(GABRA1):c.832T>C (p.Ser278Pro)
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001127644.2(GABRA1):c.856+90del rs573461878
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127644.2(GABRA1):c.857-9dup rs3214859
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
NM_001127644.2(GABRA1):c.859G>T (p.Val287Leu) rs796052493
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127644.2(GABRA1):c.868G>A (p.Val290Met) rs796052494
NM_001127644.2(GABRA1):c.876C>A (p.Thr292=) rs2113464345
NM_001127644.2(GABRA1):c.881C>T (p.Thr294Ile) rs796052495
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.891C>G (p.Ser297Arg) rs796052497
NM_001127644.2(GABRA1):c.895A>C (p.Ser299Arg)
NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala) rs1581220195
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp) rs1554087620
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile) rs1581220210
NM_001127644.2(GABRA1):c.934G>A (p.Ala312Thr) rs1131691884
NM_001127644.2(GABRA1):c.940G>A (p.Asp314Asn) rs1064795283
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.973T>C (p.Phe325Leu) rs1064794681
NM_001127644.2(GABRA1):c.982C>G (p.Leu328Val)

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