ClinVar Miner

List of variants in gene GABRB3 studied for Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 459
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.1080+15A>G rs3751582 0.34839
NM_000814.6(GABRB3):c.240+13C>T rs8179186 0.12842
NM_000814.6(GABRB3):c.783G>A (p.Ser261=) rs76812964 0.02298
NM_000814.6(GABRB3):c.603C>T (p.Thr201=) rs75965657 0.01810
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_000814.6(GABRB3):c.1158C>T (p.Gly386=) rs147235962 0.00050
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945 0.00044
NM_000814.6(GABRB3):c.835+8C>T rs75812437 0.00031
NM_000814.6(GABRB3):c.80+11G>A rs368259836 0.00027
NM_000814.6(GABRB3):c.231A>G (p.Glu77=) rs151221282 0.00024
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00022
NM_000814.6(GABRB3):c.1058G>A (p.Arg353His) rs200057173 0.00018
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00016
NM_000814.6(GABRB3):c.585C>T (p.Gly195=) rs781294125 0.00015
NM_000814.6(GABRB3):c.894C>T (p.Pro298=) rs139378274 0.00015
NC_000015.10:g.26773866C>A rs563217194 0.00012
NM_000814.6(GABRB3):c.675C>T (p.Phe225=) rs201004195 0.00012
NM_000814.6(GABRB3):c.683-7C>A rs759453899 0.00011
NM_000814.6(GABRB3):c.1081-10G>A rs200137318 0.00010
NM_000814.6(GABRB3):c.1081-11C>T rs370945916 0.00010
NM_000814.6(GABRB3):c.1113G>A (p.Ser371=) rs139370891 0.00010
NM_000814.6(GABRB3):c.255C>T (p.Thr85=) rs372195395 0.00010
NM_000814.6(GABRB3):c.80+13G>A rs749065228 0.00009
NM_000814.6(GABRB3):c.1110A>G (p.Thr370=) rs200523834 0.00006
NM_000814.6(GABRB3):c.357C>T (p.Pro119=) rs370237352 0.00006
NM_000814.6(GABRB3):c.39C>T (p.Phe13=) rs761422251 0.00006
NM_000814.6(GABRB3):c.627G>A (p.Pro209=) rs146431931 0.00006
NM_000814.6(GABRB3):c.81-16C>T rs769413892 0.00006
NM_000814.6(GABRB3):c.835+5G>A rs374357218 0.00006
NM_000814.6(GABRB3):c.1338T>C (p.Asn446=) rs370026053 0.00005
NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn) rs375461837 0.00005
NM_000814.6(GABRB3):c.1057C>T (p.Arg353Cys) rs775988401 0.00004
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His) rs185383468 0.00004
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) rs76962261 0.00004
NM_000814.6(GABRB3):c.241-7465G>A rs990895163 0.00004
NM_000814.6(GABRB3):c.471G>A (p.Thr157=) rs143528720 0.00004
NM_000814.6(GABRB3):c.549C>T (p.Gly183=) rs780056442 0.00004
NM_000814.6(GABRB3):c.650G>A (p.Arg217His) rs121913125 0.00004
NM_000814.6(GABRB3):c.683-4A>G rs776560822 0.00004
NM_000814.6(GABRB3):c.81-4C>G rs1223039173 0.00004
NM_000814.6(GABRB3):c.87C>T (p.Asn29=) rs772263479 0.00004
NM_000814.6(GABRB3):c.1068C>T (p.Ser356=) rs369761963 0.00003
NM_000814.6(GABRB3):c.1081-17A>G rs963453392 0.00003
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val) rs377215030 0.00003
NM_000814.6(GABRB3):c.156A>T (p.Leu52=) rs368193507 0.00003
NM_000814.6(GABRB3):c.174T>G (p.Gly58=) rs749519657 0.00003
NM_000814.6(GABRB3):c.180G>A (p.Pro60=) rs775865564 0.00003
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.321G>A (p.Thr107=) rs367761610 0.00003
NM_000814.6(GABRB3):c.321G>T (p.Thr107=) rs367761610 0.00003
NM_000814.6(GABRB3):c.417C>T (p.Arg139=) rs933729675 0.00003
NM_000814.6(GABRB3):c.544+3G>T rs377463653 0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846 0.00003
NM_000814.6(GABRB3):c.80+12G>A rs926231041 0.00003
NM_000814.6(GABRB3):c.836-20C>T rs369364757 0.00003
NM_000814.6(GABRB3):c.936C>T (p.Gly312=) rs147532209 0.00003
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) rs77608123 0.00003
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) rs1224993536 0.00002
NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser) rs757233280 0.00002
NM_000814.6(GABRB3):c.1159G>A (p.Asp387Asn) rs373823173 0.00002
NM_000814.6(GABRB3):c.1266G>A (p.Pro422=) rs377621777 0.00002
NM_000814.6(GABRB3):c.172+10C>T rs764970437 0.00002
NM_000814.6(GABRB3):c.172+4A>G rs752221563 0.00002
NM_000814.6(GABRB3):c.173-13G>C rs371144939 0.00002
NM_000814.6(GABRB3):c.240+12C>T rs25408 0.00002
NM_000814.6(GABRB3):c.241-9T>C rs771268184 0.00002
NM_000814.6(GABRB3):c.513C>T (p.Asp171=) rs200507900 0.00002
NM_000814.6(GABRB3):c.648C>T (p.His216=) rs144001770 0.00002
NM_000814.6(GABRB3):c.753T>C (p.Tyr251=) rs150534186 0.00002
NM_000814.6(GABRB3):c.80+4G>C rs542737772 0.00002
NM_000814.6(GABRB3):c.81-3C>T rs746996582 0.00002
NM_000814.6(GABRB3):c.840C>T (p.Ile280=) rs1053195381 0.00002
NM_000814.6(GABRB3):c.918T>A (p.Ile306=) rs756626803 0.00002
NM_000814.6(GABRB3):c.942C>T (p.Phe314=) rs757856929 0.00002
NM_021912.5(GABRB3):c.80+10G>A rs763316211 0.00002
NM_000814.6(GABRB3):c.1059T>C (p.Arg353=) rs373254789 0.00001
NM_000814.6(GABRB3):c.1069G>A (p.Glu357Lys) rs572427454 0.00001
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp) rs771568810 0.00001
NM_000814.6(GABRB3):c.1079G>A (p.Arg360Gln) rs778442239 0.00001
NM_000814.6(GABRB3):c.1104G>C (p.Leu368=) rs777145235 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.1241G>A (p.Arg414Gln) rs373229638 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.1329C>T (p.Thr443=) rs754147659 0.00001
NM_000814.6(GABRB3):c.1330G>A (p.Asp444Asn) rs766672883 0.00001
NM_000814.6(GABRB3):c.1362C>T (p.Ile454=) rs745449592 0.00001
NM_000814.6(GABRB3):c.136A>C (p.Lys46Gln) rs1057520112 0.00001
NM_000814.6(GABRB3):c.172+16G>A rs1891184947 0.00001
NM_000814.6(GABRB3):c.172+17C>T rs1891184871 0.00001
NM_000814.6(GABRB3):c.172+8G>C rs1451838565 0.00001
NM_000814.6(GABRB3):c.173-17T>A rs1178284927 0.00001
NM_000814.6(GABRB3):c.173-5C>G rs547678442 0.00001
NM_000814.6(GABRB3):c.183C>G (p.Val61=) rs778097525 0.00001
NM_000814.6(GABRB3):c.217G>C (p.Asp73His) rs768859258 0.00001
NM_000814.6(GABRB3):c.241-8C>T rs532293456 0.00001
NM_000814.6(GABRB3):c.291C>T (p.Leu97=) rs779511362 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.33C>T (p.Gly11=) rs1219990897 0.00001
NM_000814.6(GABRB3):c.348A>G (p.Leu116=) rs758378648 0.00001
NM_000814.6(GABRB3):c.34A>G (p.Ile12Val) rs1451852360 0.00001
NM_000814.6(GABRB3):c.393G>T (p.Val131=) rs1892476911 0.00001
NM_000814.6(GABRB3):c.434C>G (p.Pro145Arg) rs1325124119 0.00001
NM_000814.6(GABRB3):c.558G>A (p.Thr186=) rs745982738 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.639C>T (p.Ile213=) rs767178198 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.660G>A (p.Ser220=) rs745841016 0.00001
NM_000814.6(GABRB3):c.682_682+3dup rs1254941219 0.00001
NM_000814.6(GABRB3):c.683-16T>C rs1269995867 0.00001
NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp) rs144496462 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.774G>A (p.Thr258=) rs779417468 0.00001
NM_000814.6(GABRB3):c.81-11C>T rs759375301 0.00001
NM_000814.6(GABRB3):c.847G>A (p.Val283Met) rs1595440460 0.00001
NM_000814.6(GABRB3):c.975C>T (p.Ala325=) rs1160874734 0.00001
NC_000015.10:g.26773704C>T rs1060504683
NC_000015.10:g.26773790G>C rs20317
NC_000015.9:g.(?_26792940)_(26793301_?)del
NC_000015.9:g.(?_26792940)_(26828581_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)dup
NC_000015.9:g.(?_26792940)_(27018109_?)del
NC_000015.9:g.(?_26792940)_(27018109_?)dup
NC_000015.9:g.(?_26792940)_(27020442_?)del
NC_000015.9:g.(?_26792940)_(27020442_?)dup
NC_000015.9:g.(?_26866441)_(26866701_?)del
NC_000015.9:g.(?_26866441)_(27018109_?)dup
NC_000015.9:g.(?_27017529)_(27018109_?)del
NC_000015.9:g.(?_27017808)_(27020442_?)dup
NM_000814.6(GABRB3):c.1005C>G (p.Gly335=) rs74907974
NM_000814.6(GABRB3):c.1005C>T (p.Gly335=) rs74907974
NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln) rs761102474
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.1054del (p.Asp352fs) rs1889959221
NM_000814.6(GABRB3):c.1070A>C (p.Glu357Ala)
NM_000814.6(GABRB3):c.1080+14_1080+15inv
NM_000814.6(GABRB3):c.1080+3A>G rs1889957496
NM_000814.6(GABRB3):c.1080+7T>C
NM_000814.6(GABRB3):c.1081-10G>T
NM_000814.6(GABRB3):c.1081-13del rs755203442
NM_000814.6(GABRB3):c.1081-5A>G
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met) rs1889329356
NM_000814.6(GABRB3):c.1086T>C (p.Asp362=)
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.1101T>A (p.Ile367=) rs2140645991
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.1116G>T (p.Leu372=)
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.1140G>A (p.Glu380=)
NM_000814.6(GABRB3):c.1146A>G (p.Ser382=) rs2140645804
NM_000814.6(GABRB3):c.1148G>A (p.Gly383Asp) rs1567090411
NM_000814.6(GABRB3):c.1151G>T (p.Gly384Val)
NM_000814.6(GABRB3):c.1167G>A (p.Arg389=)
NM_000814.6(GABRB3):c.1177A>G (p.Ile393Val)
NM_000814.6(GABRB3):c.1178T>C (p.Ile393Thr)
NM_000814.6(GABRB3):c.1182del (p.Phe395fs) rs2140645684
NM_000814.6(GABRB3):c.1185T>C (p.Phe395=)
NM_000814.6(GABRB3):c.118A>G (p.Thr40Ala)
NM_000814.6(GABRB3):c.1192T>A (p.Ser398Thr)
NM_000814.6(GABRB3):c.1194A>T (p.Ser398=)
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.1245C>T (p.Phe415=)
NM_000814.6(GABRB3):c.1248G>C (p.Leu416=)
NM_000814.6(GABRB3):c.1250G>A (p.Gly417Glu) rs1889319677
NM_000814.6(GABRB3):c.1261C>T (p.Leu421Phe)
NM_000814.6(GABRB3):c.1276A>C (p.Thr426Pro)
NM_000814.6(GABRB3):c.1285C>T (p.Arg429Trp)
NM_000814.6(GABRB3):c.1296T>C (p.Ser432=)
NM_000814.6(GABRB3):c.1302G>C (p.Gln434His)
NM_000814.6(GABRB3):c.1303C>G (p.Leu435Val)
NM_000814.6(GABRB3):c.1305C>G (p.Leu435=)
NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr) rs2140645254
NM_000814.6(GABRB3):c.1320T>C (p.Pro440=)
NM_000814.6(GABRB3):c.1321dup (p.Asp441fs) rs2140645222
NM_000814.6(GABRB3):c.1332T>C (p.Asp444=)
NM_000814.6(GABRB3):c.1344A>C (p.Ile448=)
NM_000814.6(GABRB3):c.1348A>T (p.Arg450Ter) rs2140645141
NM_000814.6(GABRB3):c.1350A>G (p.Arg450=)
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.1410C>T (p.Tyr470=)
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.144C>T (p.Tyr48=) rs868652432
NM_000814.6(GABRB3):c.145G>A (p.Asp49Asn)
NM_000814.6(GABRB3):c.147C>G (p.Asp49Glu) rs557694936
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.154C>T (p.Leu52=) rs1057524415
NM_000814.6(GABRB3):c.156A>G (p.Leu52=)
NM_000814.6(GABRB3):c.15G>A (p.Ala5=)
NM_000814.6(GABRB3):c.15G>C (p.Ala5=)
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+18G>A
NM_000814.6(GABRB3):c.172+19G>A
NM_000814.6(GABRB3):c.172+1del rs1891185645
NM_000814.6(GABRB3):c.172+3_172+6del rs2140199548
NM_000814.6(GABRB3):c.172+6T>C
NM_000814.6(GABRB3):c.172+7G>C rs1207655554
NM_000814.6(GABRB3):c.172+9G>C
NM_000814.6(GABRB3):c.173-10C>T
NM_000814.6(GABRB3):c.173-15C>T rs760478130
NM_000814.6(GABRB3):c.173-18G>A
NM_000814.6(GABRB3):c.173-4G>T
NM_000814.6(GABRB3):c.173-7C>G
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.192G>C (p.Gly64=) rs1215093816
NM_000814.6(GABRB3):c.201C>T (p.Ile67=)
NM_000814.6(GABRB3):c.207C>A (p.Ile69=) rs770214111
NM_000814.6(GABRB3):c.219C>T (p.Asp73=)
NM_000814.6(GABRB3):c.227C>T (p.Ser76Phe)
NM_000814.6(GABRB3):c.228C>T (p.Ser76=)
NM_000814.6(GABRB3):c.231A>T (p.Glu77Asp)
NM_000814.6(GABRB3):c.233T>A (p.Val78Asp)
NM_000814.6(GABRB3):c.238A>C (p.Met80Leu)
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+10C>T
NM_000814.6(GABRB3):c.240+12_240+13delinsGT rs2140199003
NM_000814.6(GABRB3):c.240+13C>A
NM_000814.6(GABRB3):c.240+18C>T
NM_000814.6(GABRB3):c.240+19A>G
NM_000814.6(GABRB3):c.240+5G>C
NM_000814.6(GABRB3):c.240+7G>T
NM_000814.6(GABRB3):c.240G>A (p.Met80Ile) rs2140199021
NM_000814.6(GABRB3):c.241-12T>C rs546175770
NM_000814.6(GABRB3):c.241-14del
NM_000814.6(GABRB3):c.241-18C>G
NM_000814.6(GABRB3):c.241-1G>A
NM_000814.6(GABRB3):c.241-3del rs760251280
NM_000814.6(GABRB3):c.241-3dup rs760251280
NM_000814.6(GABRB3):c.241-7C>T rs1595490139
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.25C>A (p.Leu9Ile)
NM_000814.6(GABRB3):c.267A>G (p.Gln89=) rs1892482774
NM_000814.6(GABRB3):c.26T>C (p.Leu9Pro)
NM_000814.6(GABRB3):c.270A>G (p.Gln90=)
NM_000814.6(GABRB3):c.273T>C (p.Tyr91=)
NM_000814.6(GABRB3):c.282T>G (p.Asp94Glu) rs2140537278
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser) rs2140537271
NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys) rs1566778864
NM_000814.6(GABRB3):c.29T>A (p.Phe10Tyr)
NM_000814.6(GABRB3):c.300T>C (p.Ser100=) rs975508044
NM_000814.6(GABRB3):c.303G>A (p.Gly101=)
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.331C>T (p.Arg111Ter) rs942355738
NM_000814.6(GABRB3):c.332G>A (p.Arg111Gln)
NM_000814.6(GABRB3):c.352G>A (p.Val118Met) rs1281101862
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.366T>C (p.Tyr122=)
NM_000814.6(GABRB3):c.36C>T (p.Ile12=) rs1049486764
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.6(GABRB3):c.374del (p.Asn125fs) rs2140536988
NM_000814.6(GABRB3):c.379A>G (p.Lys127Glu) rs2140536974
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000814.6(GABRB3):c.381A>G (p.Lys127=) rs754026886
NM_000814.6(GABRB3):c.387A>G (p.Ser129=)
NM_000814.6(GABRB3):c.394C>T (p.His132Tyr) rs1892476793
NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly)
NM_000814.6(GABRB3):c.405_406del (p.Val136fs) rs2140536878
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) rs1892476410
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.42G>C (p.Ser14=)
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
NM_000814.6(GABRB3):c.454G>A (p.Gly152Arg)
NM_000814.6(GABRB3):c.456G>A (p.Gly152=)
NM_000814.6(GABRB3):c.458T>C (p.Leu153Pro) rs1892473840
NM_000814.6(GABRB3):c.459C>T (p.Leu153=) rs2140536698
NM_000814.6(GABRB3):c.461+17A>G
NM_000814.6(GABRB3):c.461+19G>A
NM_000814.6(GABRB3):c.461+4T>A
NM_000814.6(GABRB3):c.461+5G>T rs1892473626
NM_000814.6(GABRB3):c.462-13C>T
NM_000814.6(GABRB3):c.462-14C>T rs1034382308
NM_000814.6(GABRB3):c.462-16A>G
NM_000814.6(GABRB3):c.462-6T>A
NM_000814.6(GABRB3):c.462-7A>G rs1404162429
NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn) rs78196007
NM_000814.6(GABRB3):c.467C>T (p.Thr156Ile)
NM_000814.6(GABRB3):c.46C>T (p.Pro16Ser)
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met) rs2140737885
NM_000814.6(GABRB3):c.479C>T (p.Ala160Val) rs1890858644
NM_000814.6(GABRB3):c.481T>A (p.Cys161Ser)
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.487A>G (p.Met163Val) rs1060502666
NM_000814.6(GABRB3):c.48G>A (p.Pro16=)
NM_000814.6(GABRB3):c.498G>A (p.Arg166=)
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) rs1060502665
NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu) rs1555368630
NM_000814.6(GABRB3):c.507C>A (p.Pro169=)
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+10C>T rs372692704
NM_000814.6(GABRB3):c.544+11G>A
NM_000814.6(GABRB3):c.544+11G>T
NM_000814.6(GABRB3):c.544+12T>C
NM_000814.6(GABRB3):c.544+14T>G
NM_000814.6(GABRB3):c.544T>C (p.Tyr182His)
NM_000814.6(GABRB3):c.545-2A>G
NM_000814.6(GABRB3):c.545A>G (p.Tyr182Cys) rs886037939
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)
NM_000814.6(GABRB3):c.553A>C (p.Thr185Pro) rs1890748867
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile) rs1131691481
NM_000814.6(GABRB3):c.55G>C (p.Val19Leu) rs1891194798
NM_000814.6(GABRB3):c.563A>T (p.Asp188Val)
NM_000814.6(GABRB3):c.570G>A (p.Glu190=) rs2140730701
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln) rs369581041
NM_000814.6(GABRB3):c.593A>C (p.Lys198Thr)
NM_000814.6(GABRB3):c.594G>A (p.Lys198=) rs1381956789
NM_000814.6(GABRB3):c.59C>T (p.Ala20Val) rs2140199975
NM_000814.6(GABRB3):c.600T>C (p.Val200=) rs1595456673
NM_000814.6(GABRB3):c.609G>A (p.Val203=)
NM_000814.6(GABRB3):c.621G>A (p.Glu207=)
NM_000814.6(GABRB3):c.645G>A (p.Glu215=)
NM_000814.6(GABRB3):c.64G>T (p.Val22Leu)
NM_000814.6(GABRB3):c.659C>T (p.Ser220Leu)
NM_000814.6(GABRB3):c.662G>A (p.Arg221Lys)
NM_000814.6(GABRB3):c.666T>C (p.Asn222=)
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.682+7C>T rs2140730250
NM_000814.6(GABRB3):c.683-10T>G
NM_000814.6(GABRB3):c.683-11G>T
NM_000814.6(GABRB3):c.683-12T>C
NM_000814.6(GABRB3):c.683-14T>C
NM_000814.6(GABRB3):c.683-29_683-18del
NM_000814.6(GABRB3):c.683-3T>C rs79917963
NM_000814.6(GABRB3):c.683-7C>T
NM_000814.6(GABRB3):c.683-9_683-8del rs1890232405
NM_000814.6(GABRB3):c.689A>G (p.Tyr230Cys) rs1890231872
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter)
NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu) rs1567113254
NM_000814.6(GABRB3):c.719A>G (p.Lys240Arg)
NM_000814.6(GABRB3):c.732A>C (p.Gly244=) rs1890229760
NM_000814.6(GABRB3):c.735C>T (p.Tyr245=)
NM_000814.6(GABRB3):c.73G>A (p.Ala25Thr) rs1448726231
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) rs1890229008
NM_000814.6(GABRB3):c.758C>A (p.Pro253His) rs1064796514
NM_000814.6(GABRB3):c.761C>A (p.Ser254Tyr) rs1057519549
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
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+10C>G rs2140199945
NM_000814.6(GABRB3):c.80+11G>T
NM_000814.6(GABRB3):c.80+15G>A
NM_000814.6(GABRB3):c.80+7T>C
NM_000814.6(GABRB3):c.80+8C>A
NM_000814.6(GABRB3):c.804T>C (p.Asn268=)
NM_000814.6(GABRB3):c.804T>G (p.Asn268Lys)
NM_000814.6(GABRB3):c.81-15C>G
NM_000814.6(GABRB3):c.81-16C>G
NM_000814.6(GABRB3):c.81-19C>T
NM_000814.6(GABRB3):c.81-5C>G rs201579427
NM_000814.6(GABRB3):c.81-7C>T
NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr)
NM_000814.6(GABRB3):c.835+16A>G
NM_000814.6(GABRB3):c.835+20G>A
NM_000814.6(GABRB3):c.835+5G>T rs374357218
NM_000814.6(GABRB3):c.835+6T>C rs1890226391
NM_000814.6(GABRB3):c.835+7G>C
NM_000814.6(GABRB3):c.835G>A (p.Gly279Arg) rs1890226806
NM_000814.6(GABRB3):c.836-10T>C rs1595440495
NM_000814.6(GABRB3):c.836-19del rs779616935
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe) rs1057518036
NM_000814.6(GABRB3):c.845C>T (p.Thr282Ile)
NM_000814.6(GABRB3):c.850_852dup (p.Leu284dup) rs2140680304
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala) rs1595440443
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) rs1555401440
NM_000814.6(GABRB3):c.866T>C (p.Ile289Thr)
NM_000814.6(GABRB3):c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
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.885G>A (p.Glu295=) rs749704431
NM_000814.6(GABRB3):c.892C>T (p.Pro298Ser)
NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln) rs1567106381
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.902C>T (p.Pro301Leu) rs1889966534
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu) rs1555401426
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.915C>T (p.Ala305=) rs1889965667
NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr) rs1889965425
NM_000814.6(GABRB3):c.91_92delinsTT (p.Pro31Phe)
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg) rs746425161
NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter)
NM_000814.6(GABRB3):c.932T>C (p.Met311Thr) rs1889964664
NM_000814.6(GABRB3):c.93C>T (p.Pro31=)
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.982A>C (p.Asn328His) rs2140679963
NM_000814.6(GABRB3):c.985T>C (p.Tyr329His) rs1889963053
NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter)
NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser) rs1555401411
NM_000814.6(GABRB3):c.99C>T (p.Asn33=)
NM_000814.6(GABRB3):c.9C>G (p.Gly3=)
NM_021912.5(GABRB3):c.2T>C (p.Met1Thr) rs1595364724

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