ClinVar Miner

List of variants in gene GABRB3 reported as likely benign for genetic generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 220
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
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.231A>G (p.Glu77=) rs151221282 0.00024
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
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.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.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.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.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.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.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.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_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.1079G>A (p.Arg360Gln) rs778442239 0.00001
NM_000814.6(GABRB3):c.1104G>C (p.Leu368=) rs777145235 0.00001
NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln) rs373229638 0.00001
NM_000814.6(GABRB3):c.1329C>T (p.Thr443=) rs754147659 0.00001
NM_000814.6(GABRB3):c.1362C>T (p.Ile454=) rs745449592 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.241-8C>T rs532293456 0.00001
NM_000814.6(GABRB3):c.291C>T (p.Leu97=) rs779511362 0.00001
NM_000814.6(GABRB3):c.33C>T (p.Gly11=) rs1219990897 0.00001
NM_000814.6(GABRB3):c.393G>T (p.Val131=) rs1892476911 0.00001
NM_000814.6(GABRB3):c.558G>A (p.Thr186=) rs745982738 0.00001
NM_000814.6(GABRB3):c.639C>T (p.Ile213=) rs767178198 0.00001
NM_000814.6(GABRB3):c.660G>A (p.Ser220=) rs745841016 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.774G>A (p.Thr258=) rs779417468 0.00001
NM_000814.6(GABRB3):c.81-11C>T rs759375301 0.00001
NM_000814.6(GABRB3):c.975C>T (p.Ala325=) rs1160874734 0.00001
NC_000015.10:g.26773704C>T rs1060504683
NM_000814.6(GABRB3):c.1005C>G (p.Gly335=) rs74907974
NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln) rs761102474
NM_000814.6(GABRB3):c.1080+14_1080+15inv
NM_000814.6(GABRB3):c.1080+7T>C
NM_000814.6(GABRB3):c.1081-10G>T
NM_000814.6(GABRB3):c.1086T>C (p.Asp362=)
NM_000814.6(GABRB3):c.1101T>A (p.Ile367=) rs2140645991
NM_000814.6(GABRB3):c.1110A>T (p.Thr370=)
NM_000814.6(GABRB3):c.1116G>T (p.Leu372=)
NM_000814.6(GABRB3):c.1140G>A (p.Glu380=)
NM_000814.6(GABRB3):c.1146A>G (p.Ser382=) rs2140645804
NM_000814.6(GABRB3):c.1158C>A (p.Gly386=)
NM_000814.6(GABRB3):c.1167G>A (p.Arg389=)
NM_000814.6(GABRB3):c.1177A>G (p.Ile393Val)
NM_000814.6(GABRB3):c.1185T>C (p.Phe395=)
NM_000814.6(GABRB3):c.1194A>T (p.Ser398=)
NM_000814.6(GABRB3):c.1245C>T (p.Phe415=)
NM_000814.6(GABRB3):c.1248G>C (p.Leu416=)
NM_000814.6(GABRB3):c.1266G>T (p.Pro422=)
NM_000814.6(GABRB3):c.126C>T (p.Asp42=)
NM_000814.6(GABRB3):c.1296T>C (p.Ser432=)
NM_000814.6(GABRB3):c.1299A>G (p.Ser433=)
NM_000814.6(GABRB3):c.1305C>G (p.Leu435=)
NM_000814.6(GABRB3):c.1320T>C (p.Pro440=)
NM_000814.6(GABRB3):c.1332T>C (p.Asp444=)
NM_000814.6(GABRB3):c.1344A>C (p.Ile448=)
NM_000814.6(GABRB3):c.1350A>G (p.Arg450=)
NM_000814.6(GABRB3):c.1410C>T (p.Tyr470=)
NM_000814.6(GABRB3):c.144C>T (p.Tyr48=) rs868652432
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.172+15C>T
NM_000814.6(GABRB3):c.172+18G>A
NM_000814.6(GABRB3):c.172+19G>A
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.183C>T (p.Val61=) rs778097525
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.228C>T (p.Ser76=)
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+7G>T
NM_000814.6(GABRB3):c.241-12T>C rs546175770
NM_000814.6(GABRB3):c.241-18C>G
NM_000814.6(GABRB3):c.241-7C>T rs1595490139
NM_000814.6(GABRB3):c.267A>G (p.Gln89=) rs1892482774
NM_000814.6(GABRB3):c.270A>G (p.Gln90=)
NM_000814.6(GABRB3):c.273T>C (p.Tyr91=)
NM_000814.6(GABRB3):c.300T>C (p.Ser100=) rs975508044
NM_000814.6(GABRB3):c.303G>A (p.Gly101=)
NM_000814.6(GABRB3):c.331C>A (p.Arg111=)
NM_000814.6(GABRB3):c.333A>T (p.Arg111=)
NM_000814.6(GABRB3):c.363A>G (p.Thr121=)
NM_000814.6(GABRB3):c.366T>C (p.Tyr122=)
NM_000814.6(GABRB3):c.36C>T (p.Ile12=) rs1049486764
NM_000814.6(GABRB3):c.381A>G (p.Lys127=) rs754026886
NM_000814.6(GABRB3):c.387A>G (p.Ser129=)
NM_000814.6(GABRB3):c.42G>C (p.Ser14=)
NM_000814.6(GABRB3):c.456G>A (p.Gly152=)
NM_000814.6(GABRB3):c.459C>T (p.Leu153=) rs2140536698
NM_000814.6(GABRB3):c.461+13del
NM_000814.6(GABRB3):c.461+17A>G
NM_000814.6(GABRB3):c.461+19G>A
NM_000814.6(GABRB3):c.461+8T>C
NM_000814.6(GABRB3):c.462-13C>T
NM_000814.6(GABRB3):c.462-13del
NM_000814.6(GABRB3):c.462-14C>T rs1034382308
NM_000814.6(GABRB3):c.462-16A>G
NM_000814.6(GABRB3):c.462-7A>G rs1404162429
NM_000814.6(GABRB3):c.477A>G (p.Ala159=)
NM_000814.6(GABRB3):c.48G>A (p.Pro16=)
NM_000814.6(GABRB3):c.498G>A (p.Arg166=)
NM_000814.6(GABRB3):c.507C>A (p.Pro169=)
NM_000814.6(GABRB3):c.544+10C>T rs372692704
NM_000814.6(GABRB3):c.544+11G>A
NM_000814.6(GABRB3):c.544+12T>C
NM_000814.6(GABRB3):c.544+14T>G
NM_000814.6(GABRB3):c.545-18C>T
NM_000814.6(GABRB3):c.545-8C>G
NM_000814.6(GABRB3):c.570G>A (p.Glu190=) rs2140730701
NM_000814.6(GABRB3):c.594G>A (p.Lys198=) rs1381956789
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.627G>C (p.Pro209=)
NM_000814.6(GABRB3):c.645G>A (p.Glu215=)
NM_000814.6(GABRB3):c.662G>A (p.Arg221Lys)
NM_000814.6(GABRB3):c.666T>C (p.Asn222=)
NM_000814.6(GABRB3):c.682+11C>T
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.683-7C>T
NM_000814.6(GABRB3):c.683-9_683-8del rs1890232405
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.80+10C>G rs2140199945
NM_000814.6(GABRB3):c.80+11G>T
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.81-13G>A
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.835+16A>G
NM_000814.6(GABRB3):c.835+20G>A
NM_000814.6(GABRB3):c.835+7G>C
NM_000814.6(GABRB3):c.836-10T>C rs1595440495
NM_000814.6(GABRB3):c.836-19del rs779616935
NM_000814.6(GABRB3):c.836-4C>T
NM_000814.6(GABRB3):c.885G>A (p.Glu295=) rs749704431
NM_000814.6(GABRB3):c.915C>T (p.Ala305=) rs1889965667
NM_000814.6(GABRB3):c.93C>T (p.Pro31=)
NM_000814.6(GABRB3):c.99C>T (p.Asn33=)
NM_000814.6(GABRB3):c.9C>G (p.Gly3=)

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.