ClinVar Miner

List of variants reported as uncertain significance for Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5

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ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.835+5G>A rs374357218 0.00006
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.544+3G>T rs377463653 0.00003
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) rs1224993536 0.00002
NM_000814.6(GABRB3):c.172+4A>G rs752221563 0.00002
NM_000814.6(GABRB3):c.80+4G>C rs542737772 0.00002
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp) rs771568810 0.00001
NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser) rs756866953 0.00001
NM_000814.6(GABRB3):c.1139A>C (p.Glu380Ala) rs745675693 0.00001
NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val) rs1352939866 0.00001
NM_000814.6(GABRB3):c.1226G>A (p.Arg409Gln) rs766795597 0.00001
NM_000814.6(GABRB3):c.1286G>A (p.Arg429Gln) rs777882335 0.00001
NM_000814.6(GABRB3):c.1327A>T (p.Thr443Ser) rs1218316231 0.00001
NM_000814.6(GABRB3):c.1330G>A (p.Asp444Asn) rs766672883 0.00001
NM_000814.6(GABRB3):c.136A>C (p.Lys46Gln) rs1057520112 0.00001
NM_000814.6(GABRB3):c.217G>C (p.Asp73His) rs768859258 0.00001
NM_000814.6(GABRB3):c.307C>T (p.Pro103Ser) rs267604145 0.00001
NM_000814.6(GABRB3):c.329A>G (p.Asn110Ser) rs751329477 0.00001
NM_000814.6(GABRB3):c.34A>G (p.Ile12Val) rs1451852360 0.00001
NM_000814.6(GABRB3):c.434C>G (p.Pro145Arg) rs1325124119 0.00001
NM_000814.6(GABRB3):c.598G>A (p.Val200Ile) rs372359936 0.00001
NM_000814.6(GABRB3):c.637A>G (p.Ile213Val) rs749931408 0.00001
NM_000814.6(GABRB3):c.640G>A (p.Val214Met) rs761554616 0.00001
NM_000814.6(GABRB3):c.649C>T (p.Arg217Cys) rs1301259280 0.00001
NM_000814.6(GABRB3):c.682_682+3dup rs1254941219 0.00001
NM_000814.6(GABRB3):c.713G>A (p.Arg238Gln) rs773257229 0.00001
NM_000814.6(GABRB3):c.73G>T (p.Ala25Ser) rs1448726231 0.00001
NM_000814.6(GABRB3):c.847G>A (p.Val283Met) rs1595440460 0.00001
NC_000015.9:g.(?_26792920)_(27018162_?)dup
NC_000015.9:g.(?_26792920)_(27020442_?)dup
NC_000015.9:g.(?_26792940)_(26793301_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)dup
NC_000015.9:g.(?_26792940)_(27018109_?)dup
NC_000015.9:g.(?_26792940)_(27020442_?)dup
NC_000015.9:g.(?_26792940)_(28544682_?)dup
NC_000015.9:g.(?_26866441)_(27018109_?)dup
NC_000015.9:g.(?_27017808)_(27020442_?)dup
NM_000814.5(GABRB3):c.-114_*4247del
NM_000814.6(GABRB3):c.1023G>T (p.Lys341Asn)
NM_000814.6(GABRB3):c.1030G>A (p.Glu344Lys)
NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro) rs1365439059
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) rs763319754
NM_000814.6(GABRB3):c.1070A>C (p.Glu357Ala)
NM_000814.6(GABRB3):c.1080+3A>G rs1889957496
NM_000814.6(GABRB3):c.1081-5A>G
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met) rs1889329356
NM_000814.6(GABRB3):c.1090C>T (p.His364Tyr)
NM_000814.6(GABRB3):c.1097A>G (p.Asn366Ser) rs759847671
NM_000814.6(GABRB3):c.1099A>G (p.Ile367Val)
NM_000814.6(GABRB3):c.1100T>C (p.Ile367Thr)
NM_000814.6(GABRB3):c.1105T>G (p.Leu369Val)
NM_000814.6(GABRB3):c.1111T>G (p.Ser371Ala)
NM_000814.6(GABRB3):c.1115T>G (p.Leu372Arg)
NM_000814.6(GABRB3):c.1117G>A (p.Glu373Lys)
NM_000814.6(GABRB3):c.1127A>C (p.Asn376Thr) rs756866953
NM_000814.6(GABRB3):c.1136A>G (p.Asn379Ser)
NM_000814.6(GABRB3):c.1148G>A (p.Gly383Asp) rs1567090411
NM_000814.6(GABRB3):c.1151G>T (p.Gly384Val)
NM_000814.6(GABRB3):c.1178T>C (p.Ile393Thr)
NM_000814.6(GABRB3):c.1182del (p.Phe395fs) rs2140645684
NM_000814.6(GABRB3):c.118A>G (p.Thr40Ala)
NM_000814.6(GABRB3):c.1192T>A (p.Ser398Thr)
NM_000814.6(GABRB3):c.119C>T (p.Thr40Met) rs1178513934
NM_000814.6(GABRB3):c.11T>G (p.Leu4Arg)
NM_000814.6(GABRB3):c.1211A>T (p.Lys404Ile) rs2140645593
NM_000814.6(GABRB3):c.1216_1217del (p.Ser406fs)
NM_000814.6(GABRB3):c.1219A>G (p.Met407Val)
NM_000814.6(GABRB3):c.1225C>T (p.Arg409Ter) rs1555400368
NM_000814.6(GABRB3):c.1240C>T (p.Arg414Ter) rs536564598
NM_000814.6(GABRB3):c.1250G>A (p.Gly417Glu) rs1889319677
NM_000814.6(GABRB3):c.1276A>C (p.Thr426Pro)
NM_000814.6(GABRB3):c.1285C>T (p.Arg429Trp)
NM_000814.6(GABRB3):c.1302G>C (p.Gln434His)
NM_000814.6(GABRB3):c.1303C>G (p.Leu435Val)
NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr) rs2140645254
NM_000814.6(GABRB3):c.1321dup (p.Asp441fs) rs2140645222
NM_000814.6(GABRB3):c.1348A>T (p.Arg450Ter) rs2140645141
NM_000814.6(GABRB3):c.1362C>G (p.Ile454Met) rs745449592
NM_000814.6(GABRB3):c.1368del (p.Pro457fs)
NM_000814.6(GABRB3):c.1384C>G (p.Leu462Val)
NM_000814.6(GABRB3):c.1399T>C (p.Tyr467His) rs1889312439
NM_000814.6(GABRB3):c.1400A>C (p.Tyr467Ser)
NM_000814.6(GABRB3):c.1414_1416del (p.Val472del)
NM_000814.6(GABRB3):c.1419C>G (p.Asn473Lys)
NM_000814.6(GABRB3):c.143A>G (p.Tyr48Cys) rs2140199598
NM_000814.6(GABRB3):c.145G>A (p.Asp49Asn)
NM_000814.6(GABRB3):c.147C>G (p.Asp49Glu) rs557694936
NM_000814.6(GABRB3):c.160C>T (p.Pro54Ser)
NM_000814.6(GABRB3):c.167T>C (p.Phe56Ser) rs1891185887
NM_000814.6(GABRB3):c.169G>C (p.Gly57Arg) rs1891185775
NM_000814.6(GABRB3):c.172+3_172+6del rs2140199548
NM_000814.6(GABRB3):c.172+6T>C
NM_000814.6(GABRB3):c.173G>T (p.Gly58Val)
NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser) rs1555383878
NM_000814.6(GABRB3):c.184T>G (p.Cys62Gly) rs1595363628
NM_000814.6(GABRB3):c.190G>C (p.Gly64Arg) rs2140199113
NM_000814.6(GABRB3):c.191G>A (p.Gly64Glu) rs1891175434
NM_000814.6(GABRB3):c.227C>T (p.Ser76Phe)
NM_000814.6(GABRB3):c.231A>T (p.Glu77Asp)
NM_000814.6(GABRB3):c.233T>A (p.Val78Asp)
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) rs1064794797
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.240+5G>C
NM_000814.6(GABRB3):c.240G>A (p.Met80Ile) rs2140199021
NM_000814.6(GABRB3):c.245A>C (p.Tyr82Ser) rs1892483792
NM_000814.6(GABRB3):c.245A>G (p.Tyr82Cys) rs1892483792
NM_000814.6(GABRB3):c.267A>G (p.Gln89=) rs1892482774
NM_000814.6(GABRB3):c.26T>C (p.Leu9Pro)
NM_000814.6(GABRB3):c.282T>G (p.Asp94Glu) rs2140537278
NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys) rs1566778864
NM_000814.6(GABRB3):c.29T>A (p.Phe10Tyr)
NM_000814.6(GABRB3):c.308C>A (p.Pro103His) rs1892480524
NM_000814.6(GABRB3):c.310C>T (p.Leu104Phe) rs2140537193
NM_000814.6(GABRB3):c.311T>C (p.Leu104Pro) rs2140537185
NM_000814.6(GABRB3):c.320C>T (p.Thr107Met) rs1347499222
NM_000814.6(GABRB3):c.332G>A (p.Arg111Gln)
NM_000814.6(GABRB3):c.352G>A (p.Val118Met) rs1281101862
NM_000814.6(GABRB3):c.394C>T (p.His132Tyr) rs1892476793
NM_000814.6(GABRB3):c.40T>G (p.Ser14Ala)
NM_000814.6(GABRB3):c.413A>C (p.Asn138Thr) rs1892475991
NM_000814.6(GABRB3):c.416G>A (p.Arg139His) rs1197311612
NM_000814.6(GABRB3):c.416G>T (p.Arg139Leu)
NM_000814.6(GABRB3):c.418A>G (p.Met140Val) rs1555371848
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys) rs1892475061
NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg) rs1595489812
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
NM_000814.6(GABRB3):c.454G>A (p.Gly152Arg)
NM_000814.6(GABRB3):c.458T>C (p.Leu153Pro) rs1892473840
NM_000814.6(GABRB3):c.461+4T>A
NM_000814.6(GABRB3):c.461+5G>T rs1892473626
NM_000814.6(GABRB3):c.462-6T>A
NM_000814.6(GABRB3):c.46C>T (p.Pro16Ser)
NM_000814.6(GABRB3):c.479C>T (p.Ala160Val) rs1890858644
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu) rs1555368630
NM_000814.6(GABRB3):c.514G>C (p.Glu172Gln)
NM_000814.6(GABRB3):c.522C>G (p.Asn174Lys) rs2140737726
NM_000814.6(GABRB3):c.525C>G (p.Cys175Trp)
NM_000814.6(GABRB3):c.526A>G (p.Thr176Ala)
NM_000814.6(GABRB3):c.53T>A (p.Leu18Gln) rs2140199978
NM_000814.6(GABRB3):c.544+11G>T
NM_000814.6(GABRB3):c.544T>C (p.Tyr182His)
NM_000814.6(GABRB3):c.545A>G (p.Tyr182Cys) rs886037939
NM_000814.6(GABRB3):c.553A>C (p.Thr185Pro) rs1890748867
NM_000814.6(GABRB3):c.55G>C (p.Val19Leu) rs1891194798
NM_000814.6(GABRB3):c.563A>T (p.Asp188Val)
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln) rs369581041
NM_000814.6(GABRB3):c.593A>C (p.Lys198Thr)
NM_000814.6(GABRB3):c.59C>T (p.Ala20Val) rs2140199975
NM_000814.6(GABRB3):c.64G>T (p.Val22Leu)
NM_000814.6(GABRB3):c.659C>T (p.Ser220Leu)
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) rs2140730286
NM_000814.6(GABRB3):c.668T>A (p.Val223Asp) rs2140730292
NM_000814.6(GABRB3):c.670G>T (p.Val224Phe)
NM_000814.6(GABRB3):c.673T>G (p.Phe225Val) rs2140730279
NM_000814.6(GABRB3):c.679A>G (p.Thr227Ala) rs1890741727
NM_000814.6(GABRB3):c.683-3T>C rs79917963
NM_000814.6(GABRB3):c.689A>G (p.Tyr230Cys) rs1890231872
NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu) rs1567113254
NM_000814.6(GABRB3):c.719A>G (p.Lys240Arg)
NM_000814.6(GABRB3):c.778C>A (p.Leu260Met)
NM_000814.6(GABRB3):c.782_783delinsTA (p.Ser261Leu) rs1890228050
NM_000814.6(GABRB3):c.799A>G (p.Ile267Val) rs2140696625
NM_000814.6(GABRB3):c.80+15G>A
NM_000814.6(GABRB3):c.804T>G (p.Asn268Lys)
NM_000814.6(GABRB3):c.835+5G>T rs374357218
NM_000814.6(GABRB3):c.835+6T>C rs1890226391
NM_000814.6(GABRB3):c.835G>A (p.Gly279Arg) rs1890226806
NM_000814.6(GABRB3):c.845C>T (p.Thr282Ile)
NM_000814.6(GABRB3):c.850_852dup (p.Leu284dup) rs2140680304
NM_000814.6(GABRB3):c.866T>C (p.Ile289Thr)
NM_000814.6(GABRB3):c.868A>C (p.Asn290His)
NM_000814.6(GABRB3):c.878T>C (p.Leu293Pro) rs2140680258
NM_000814.6(GABRB3):c.87C>G (p.Asn29Lys) rs772263479
NM_000814.6(GABRB3):c.881G>A (p.Arg294Gln)
NM_000814.6(GABRB3):c.892C>T (p.Pro298Ser)
NM_000814.6(GABRB3):c.896A>G (p.Lys299Arg)
NM_000814.6(GABRB3):c.898A>G (p.Ile300Val) rs1567106362
NM_000814.6(GABRB3):c.89A>C (p.Asp30Ala)
NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu) rs1555401426
NM_000814.6(GABRB3):c.91_92delinsTT (p.Pro31Phe)
NM_000814.6(GABRB3):c.932T>C (p.Met311Thr) rs1889964664
NM_000814.6(GABRB3):c.943G>A (p.Val315Ile) rs1889964397
NM_000814.6(GABRB3):c.943G>T (p.Val315Phe)
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) rs71651682
NM_000814.6(GABRB3):c.958G>A (p.Ala320Thr) rs2140680027
NM_000814.6(GABRB3):c.967G>A (p.Glu323Lys)
NM_000814.6(GABRB3):c.985T>C (p.Tyr329His) rs1889963053
NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser) rs1555401411
NM_021912.5(GABRB3):c.2T>C (p.Met1Thr) rs1595364724

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