ClinVar Miner

List of variants reported as uncertain significance for Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4

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Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala) rs749707253 0.00007
NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg) rs376031361 0.00004
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu) rs751571034 0.00002
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser) rs1229633395 0.00002
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=) rs75423500 0.00002
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480 0.00001
NM_001127644.2(GABRA1):c.1127C>A (p.Thr376Asn) rs761617651 0.00001
NM_001127644.2(GABRA1):c.1147G>A (p.Asp383Asn) rs375377575 0.00001
NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316 0.00001
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) rs1057518405 0.00001
NM_001127644.2(GABRA1):c.1357A>G (p.Thr453Ala) rs747892371 0.00001
NM_001127644.2(GABRA1):c.1358C>T (p.Thr453Ile) rs1755420544 0.00001
NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala) rs1429109541 0.00001
NM_001127644.2(GABRA1):c.385C>T (p.His129Tyr) rs146134200 0.00001
NM_001127644.2(GABRA1):c.476+6G>A rs764873956 0.00001
NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly) rs765292293 0.00001
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His) rs777320447 0.00001
NM_001127644.2(GABRA1):c.677A>G (p.Asp226Gly) rs748783999 0.00001
NM_001127644.2(GABRA1):c.691C>G (p.Gln231Glu) rs1173993011 0.00001
NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys) rs769743354 0.00001
NC_000005.9:g.(?_160721088)_(161524884_?)dup
NC_000005.9:g.(?_161112996)_(161324428_?)dup
NM_001127644.2(GABRA1):c.1001T>G (p.Val334Gly)
NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile) rs1581220295
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1033G>A (p.Asp345Asn) rs2113465051
NM_001127644.2(GABRA1):c.103C>A (p.Leu35Ile)
NM_001127644.2(GABRA1):c.1043G>C (p.Ser348Thr)
NM_001127644.2(GABRA1):c.1069G>A (p.Val357Ile)
NM_001127644.2(GABRA1):c.1070T>A (p.Val357Glu) rs749707253
NM_001127644.2(GABRA1):c.1078C>A (p.Pro360Thr)
NM_001127644.2(GABRA1):c.1078C>G (p.Pro360Ala)
NM_001127644.2(GABRA1):c.1078C>T (p.Pro360Ser)
NM_001127644.2(GABRA1):c.1081C>T (p.Leu361Phe)
NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr) rs775344663
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser) rs1424508480
NM_001127644.2(GABRA1):c.1138G>C (p.Ala380Pro) rs2113469735
NM_001127644.2(GABRA1):c.1145G>A (p.Gly382Asp)
NM_001127644.2(GABRA1):c.1151C>G (p.Pro384Arg)
NM_001127644.2(GABRA1):c.1158A>T (p.Leu386Phe)
NM_001127644.2(GABRA1):c.1159G>T (p.Ala387Ser) rs1561588765
NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val) rs1755408701
NM_001127644.2(GABRA1):c.1162A>C (p.Thr388Pro) rs2113469919
NM_001127644.2(GABRA1):c.1184T>C (p.Ile395Thr)
NM_001127644.2(GABRA1):c.1199T>C (p.Val400Ala)
NM_001127644.2(GABRA1):c.1202A>G (p.Lys401Arg) rs745362654
NM_001127644.2(GABRA1):c.1207G>A (p.Glu403Lys) rs775157869
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.1211C>G (p.Thr404Arg) rs768389200
NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr) rs752803296
NM_001127644.2(GABRA1):c.1253A>G (p.Lys418Arg) rs1490107518
NM_001127644.2(GABRA1):c.1259A>G (p.Asp420Gly)
NM_001127644.2(GABRA1):c.1261C>T (p.Arg421Ter)
NM_001127644.2(GABRA1):c.1274T>C (p.Ile425Thr) rs1755414752
NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis) rs1755416915
NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_001127644.2(GABRA1):c.1350dup (p.Ala451fs)
NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup) rs1755419468
NM_001127644.2(GABRA1):c.1357A>C (p.Thr453Pro) rs747892371
NM_001127644.2(GABRA1):c.1358_1359delinsTC (p.Thr453Ile)
NM_001127644.2(GABRA1):c.1366C>T (p.Gln456Ter) rs1755420995
NM_001127644.2(GABRA1):c.138G>T (p.Leu46Phe)
NM_001127644.2(GABRA1):c.13C>T (p.Pro5Ser) rs866369940
NM_001127644.2(GABRA1):c.167G>A (p.Arg56His)
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys) rs1753807484
NM_001127644.2(GABRA1):c.200A>T (p.Glu67Val)
NM_001127644.2(GABRA1):c.20T>G (p.Leu7Arg)
NM_001127644.2(GABRA1):c.214A>C (p.Ile72Leu)
NM_001127644.2(GABRA1):c.216C>G (p.Ile72Met)
NM_001127644.2(GABRA1):c.217T>A (p.Phe73Ile) rs1753808798
NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly) rs1402107983
NM_001127644.2(GABRA1):c.227G>A (p.Ser76Asn)
NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg) rs1561571575
NM_001127644.2(GABRA1):c.250G>C (p.Asp84His)
NM_001127644.2(GABRA1):c.253A>G (p.Met85Val)
NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr) rs796052488
NM_001127644.2(GABRA1):c.269A>G (p.Asp90Gly)
NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)
NM_001127644.2(GABRA1):c.287G>T (p.Ser96Ile)
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.312T>G (p.Phe104Leu) rs2113381036
NM_001127644.2(GABRA1):c.320C>A (p.Pro107His)
NM_001127644.2(GABRA1):c.320C>T (p.Pro107Leu)
NM_001127644.2(GABRA1):c.326C>T (p.Thr109Ile) rs2113381099
NM_001127644.2(GABRA1):c.332T>C (p.Leu111Pro)
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) rs1754199170
NM_001127644.2(GABRA1):c.335G>T (p.Arg112Leu)
NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)
NM_001127644.2(GABRA1):c.374A>G (p.Asp125Gly) rs2113381253
NM_001127644.2(GABRA1):c.379T>G (p.Phe127Val)
NM_001127644.2(GABRA1):c.37G>A (p.Ala13Thr)
NM_001127644.2(GABRA1):c.413A>G (p.Asn138Ser)
NM_001127644.2(GABRA1):c.419C>A (p.Thr140Asn)
NM_001127644.2(GABRA1):c.429C>A (p.Asn143Lys)
NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys)
NM_001127644.2(GABRA1):c.430A>G (p.Lys144Glu) rs2113381483
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile) rs1754206052
NM_001127644.2(GABRA1):c.481A>G (p.Thr161Ala)
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.534T>G (p.His178Gln) rs1754314083
NM_001127644.2(GABRA1):c.554G>T (p.Gly185Val) rs2113389243
NM_001127644.2(GABRA1):c.560A>G (p.Tyr187Cys)
NM_001127644.2(GABRA1):c.560A>T (p.Tyr187Phe) rs1388847957
NM_001127644.2(GABRA1):c.565T>C (p.Tyr189His)
NM_001127644.2(GABRA1):c.596C>G (p.Thr199Ser)
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
NM_001127644.2(GABRA1):c.611G>T (p.Arg204Leu)
NM_001127644.2(GABRA1):c.619G>T (p.Val207Phe) rs2113414552
NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg) rs1754664241
NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr) rs1581207094
NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu) rs1754664529
NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_001127644.2(GABRA1):c.653A>C (p.Tyr218Ser) rs1754665353
NM_001127644.2(GABRA1):c.67G>A (p.Gly23Arg)
NM_001127644.2(GABRA1):c.702A>G (p.Thr234=) rs1392262946
NM_001127644.2(GABRA1):c.703+5G>A rs1754668246
NM_001127644.2(GABRA1):c.74+3_74+4delinsAT rs1757418856
NM_001127644.2(GABRA1):c.74+5G>A
NM_001127644.2(GABRA1):c.74+6G>A rs754431874
NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile) rs1755061866
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_001127644.2(GABRA1):c.790A>G (p.Thr264Ala)
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.79G>A (p.Gly27Arg)
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.817T>C (p.Trp273Arg)
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser) rs1755063824
NM_001127644.2(GABRA1):c.828A>C (p.Arg276Ser)
NM_001127644.2(GABRA1):c.831G>T (p.Glu277Asp) rs764666718
NM_001127644.2(GABRA1):c.833C>A (p.Ser278Tyr)
NM_001127644.2(GABRA1):c.833C>T (p.Ser278Phe)
NM_001127644.2(GABRA1):c.850G>C (p.Val284Leu) rs1755065243
NM_001127644.2(GABRA1):c.857-19_857-18delinsCC
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
NM_001127644.2(GABRA1):c.85C>A (p.Pro29Thr)
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
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.955G>A (p.Val319Met) rs2113464702
NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys) rs1755336507
NM_001127644.2(GABRA1):c.97G>A (p.Asp33Asn)
NM_001127644.2(GABRA1):c.983T>C (p.Leu328Pro)
NM_001127644.2(GABRA1):c.998C>T (p.Thr333Ile) rs2113464870

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