ClinVar Miner

List of variants in gene GABRD studied for genetic generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 366
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000815.5(GABRD):c.69-19G>A rs2376805 0.81443
NM_000815.5(GABRD):c.330T>C (p.Gly110=) rs2229110 0.66530
NM_000815.5(GABRD):c.1060-14C>T rs28431879 0.11669
NM_000815.5(GABRD):c.816C>T (p.Ser272=) rs28408173 0.11662
NM_000815.5(GABRD):c.1104C>T (p.Ala368=) rs28398772 0.02739
NM_000815.5(GABRD):c.659G>A (p.Arg220His) rs41307846 0.01721
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met) rs116604393 0.00685
NM_000815.5(GABRD):c.414G>A (p.Thr138=) rs77892827 0.00480
NM_000815.5(GABRD):c.405C>T (p.His135=) rs61742636 0.00262
NM_000815.5(GABRD):c.1002C>T (p.Asn334=) rs41315330 0.00194
NM_000815.5(GABRD):c.470+20G>A rs372728395 0.00124
NM_000815.5(GABRD):c.68+18G>A rs952639317 0.00122
NM_000815.5(GABRD):c.1107C>A (p.Gly369=) rs148300882 0.00115
NM_000815.5(GABRD):c.87C>T (p.Gly29=) rs79685811 0.00109
NM_000815.5(GABRD):c.831C>T (p.Pro277=) rs148120771 0.00107
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys) rs139300921 0.00080
NM_000815.5(GABRD):c.68+17C>G rs868634453 0.00063
NM_000815.5(GABRD):c.1060-7C>T rs368961588 0.00054
NM_000815.5(GABRD):c.577G>A (p.Val193Ile) rs143115257 0.00052
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser) rs79386457 0.00048
NM_000815.5(GABRD):c.1060-8T>A rs76809996 0.00045
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042
NM_000815.5(GABRD):c.102C>T (p.Ser34=) rs140855313 0.00036
NM_000815.5(GABRD):c.1152G>A (p.Pro384=) rs77557135 0.00034
NM_000815.5(GABRD):c.470+6C>T rs202225187 0.00034
NM_000815.5(GABRD):c.1113G>A (p.Thr371=) rs755961495 0.00029
NM_000815.5(GABRD):c.264G>A (p.Thr88=) rs200593470 0.00026
NM_000815.5(GABRD):c.177C>T (p.Ile59=) rs779883280 0.00025
NM_000815.5(GABRD):c.969C>T (p.Ala323=) rs146381127 0.00024
NM_000815.5(GABRD):c.1344G>A (p.Ala448=) rs144369244 0.00017
NM_000815.5(GABRD):c.555C>T (p.Tyr185=) rs201112862 0.00017
NM_000815.5(GABRD):c.69-17T>G rs546154012 0.00017
NM_000815.5(GABRD):c.492C>T (p.Cys164=) rs367776284 0.00016
NM_000815.5(GABRD):c.691+14G>A rs200682047 0.00016
NM_000815.5(GABRD):c.318C>T (p.Asn106=) rs149832567 0.00015
NM_000815.5(GABRD):c.68+10C>T rs994082959 0.00015
NM_000815.5(GABRD):c.942C>T (p.Phe314=) rs139676179 0.00013
NM_000815.5(GABRD):c.1314G>A (p.Ala438=) rs138909980 0.00011
NM_000815.5(GABRD):c.444C>T (p.Pro148=) rs373608463 0.00011
NM_000815.5(GABRD):c.730C>T (p.Arg244Trp) rs150097692 0.00011
NM_000815.5(GABRD):c.1252C>T (p.Arg418Trp) rs200019257 0.00010
NM_000815.5(GABRD):c.1166G>C (p.Gly389Ala) rs372742962 0.00009
NM_000815.5(GABRD):c.1222C>T (p.Arg408Cys) rs200430448 0.00009
NM_000815.5(GABRD):c.153C>T (p.Tyr51=) rs148496176 0.00009
NM_000815.5(GABRD):c.267G>A (p.Val89=) rs377536787 0.00009
NM_000815.5(GABRD):c.1005C>T (p.Ala335=) rs370201162 0.00008
NM_000815.5(GABRD):c.668C>T (p.Thr223Met) rs369511458 0.00008
NM_000815.5(GABRD):c.96G>C (p.Val32=) rs773911493 0.00008
NM_000815.5(GABRD):c.1350C>T (p.Tyr450=) rs368462032 0.00007
NM_000815.5(GABRD):c.447C>T (p.Asp149=) rs775338230 0.00007
NM_000815.5(GABRD):c.934G>A (p.Val312Ile) rs774201718 0.00007
NM_000815.5(GABRD):c.522C>T (p.Asp174=) rs534661864 0.00006
NM_000815.5(GABRD):c.747G>C (p.Val249=) rs199993714 0.00006
NM_000815.5(GABRD):c.105C>T (p.Asn35=) rs113473839 0.00005
NM_000815.5(GABRD):c.690C>T (p.Ser230=) rs146193210 0.00005
NM_000815.5(GABRD):c.822G>A (p.Ala274=) rs769125045 0.00005
NM_000815.5(GABRD):c.1059+16C>T rs541562450 0.00004
NM_000815.5(GABRD):c.1059+8C>T rs752030520 0.00004
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp) rs754636335 0.00004
NM_000815.5(GABRD):c.1203G>A (p.Thr401=) rs1348578642 0.00004
NM_000815.5(GABRD):c.1219G>A (p.Ala407Thr) rs143031542 0.00004
NM_000815.5(GABRD):c.1296C>T (p.Arg432=) rs375374936 0.00004
NM_000815.5(GABRD):c.147C>T (p.Ala49=) rs147463074 0.00004
NM_000815.5(GABRD):c.181+20C>T rs753987467 0.00004
NM_000815.5(GABRD):c.384C>T (p.Asn128=) rs767409551 0.00004
NM_000815.5(GABRD):c.408C>T (p.Asp136=) rs201757318 0.00004
NM_000815.5(GABRD):c.470+9G>A rs1045485424 0.00004
NM_000815.5(GABRD):c.471-8C>A rs748813137 0.00004
NM_000815.5(GABRD):c.684C>T (p.Phe228=) rs558718893 0.00004
NM_000815.5(GABRD):c.7G>T (p.Ala3Ser) rs759523853 0.00004
NM_000815.5(GABRD):c.966T>C (p.Phe322=) rs937477150 0.00004
NM_000815.5(GABRD):c.1154G>A (p.Gly385Glu) rs753657631 0.00003
NM_000815.5(GABRD):c.1343C>T (p.Ala448Val) rs756592609 0.00003
NM_000815.5(GABRD):c.135C>T (p.Asp45=) rs754323369 0.00003
NM_000815.5(GABRD):c.554-5T>A rs766985428 0.00003
NM_000815.5(GABRD):c.692-18C>T rs554815044 0.00003
NM_000815.5(GABRD):c.780G>C (p.Leu260=) rs369231950 0.00003
NM_000815.5(GABRD):c.847+12C>T rs770968835 0.00003
NM_000815.5(GABRD):c.847+5G>A rs1231232821 0.00003
NM_000815.5(GABRD):c.848-6C>T rs368572778 0.00003
NM_000815.5(GABRD):c.1059+9C>G rs757611508 0.00002
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser) rs759836961 0.00002
NM_000815.5(GABRD):c.181+9C>T rs768389556 0.00002
NM_000815.5(GABRD):c.448G>A (p.Gly150Ser) rs781431062 0.00002
NM_000815.5(GABRD):c.470+15C>A rs766248295 0.00002
NM_000815.5(GABRD):c.93C>T (p.Tyr31=) rs768454474 0.00002
NM_000815.5(GABRD):c.984C>T (p.Tyr328=) rs759009305 0.00002
NM_000815.5(GABRD):c.1001A>G (p.Asn334Ser) rs764783225 0.00001
NM_000815.5(GABRD):c.1003G>A (p.Ala335Thr) rs758908317 0.00001
NM_000815.5(GABRD):c.1032G>A (p.Lys344=) rs773238325 0.00001
NM_000815.5(GABRD):c.1060A>G (p.Met354Val) rs768220667 0.00001
NM_000815.5(GABRD):c.1100C>T (p.Ala367Val) rs1020129541 0.00001
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile) rs1057519556 0.00001
NM_000815.5(GABRD):c.1151C>T (p.Pro384Leu) rs764066786 0.00001
NM_000815.5(GABRD):c.1161G>A (p.Leu387=) rs757988403 0.00001
NM_000815.5(GABRD):c.1194_1195del (p.Glu400fs) rs1351197180 0.00001
NM_000815.5(GABRD):c.1223G>A (p.Arg408His) rs901937998 0.00001
NM_000815.5(GABRD):c.1229G>T (p.Gly410Val) rs200605909 0.00001
NM_000815.5(GABRD):c.1246C>T (p.Arg416Cys) rs370735082 0.00001
NM_000815.5(GABRD):c.1247G>A (p.Arg416His) rs1011029441 0.00001
NM_000815.5(GABRD):c.1269C>T (p.Asp423=) rs958420807 0.00001
NM_000815.5(GABRD):c.1270G>A (p.Ala424Thr) rs770260377 0.00001
NM_000815.5(GABRD):c.1284C>T (p.Asp428=) rs749606562 0.00001
NM_000815.5(GABRD):c.1323C>T (p.Ala441=) rs140601233 0.00001
NM_000815.5(GABRD):c.1338C>T (p.Tyr446=) rs1274279096 0.00001
NM_000815.5(GABRD):c.136G>A (p.Gly46Arg) rs1658879135 0.00001
NM_000815.5(GABRD):c.14C>G (p.Ala5Gly) rs1207791272 0.00001
NM_000815.5(GABRD):c.15C>T (p.Ala5=) rs1453164730 0.00001
NM_000815.5(GABRD):c.178G>A (p.Gly60Arg) rs749214783 0.00001
NM_000815.5(GABRD):c.222C>T (p.Ser74=) rs778846634 0.00001
NM_000815.5(GABRD):c.244A>G (p.Asn82Asp) rs770620492 0.00001
NM_000815.5(GABRD):c.249+8C>G rs769197624 0.00001
NM_000815.5(GABRD):c.249+8C>T rs769197624 0.00001
NM_000815.5(GABRD):c.263C>T (p.Thr88Met) rs373508468 0.00001
NM_000815.5(GABRD):c.367G>A (p.Asp123Asn) rs1658901832 0.00001
NM_000815.5(GABRD):c.425A>G (p.Lys142Arg) rs1183821856 0.00001
NM_000815.5(GABRD):c.470+7G>A rs533453337 0.00001
NM_000815.5(GABRD):c.553+10T>C rs769597473 0.00001
NM_000815.5(GABRD):c.590C>T (p.Ser197Leu) rs750394202 0.00001
NM_000815.5(GABRD):c.596G>A (p.Ser199Asn) rs779793371 0.00001
NM_000815.5(GABRD):c.612C>T (p.His204=) rs375272573 0.00001
NM_000815.5(GABRD):c.65C>T (p.Thr22Ile) rs1658715532 0.00001
NM_000815.5(GABRD):c.68+5G>C rs1571022283 0.00001
NM_000815.5(GABRD):c.71C>T (p.Ala24Val) rs748341188 0.00001
NM_000815.5(GABRD):c.728T>C (p.Leu243Pro) rs1248355743 0.00001
NM_000815.5(GABRD):c.72G>A (p.Ala24=) rs772327427 0.00001
NM_000815.5(GABRD):c.777C>T (p.Val259=) rs553793272 0.00001
NM_000815.5(GABRD):c.786C>T (p.Val262=) rs1217829506 0.00001
NM_000815.5(GABRD):c.828G>A (p.Val276=) rs1012449006 0.00001
NM_000815.5(GABRD):c.84C>T (p.Ile28=) rs769857211 0.00001
NM_000815.5(GABRD):c.931G>A (p.Asp311Asn) rs1248660340 0.00001
NM_000815.5(GABRD):c.933C>T (p.Asp311=) rs200124298 0.00001
NM_000815.5(GABRD):c.94G>A (p.Val32Met) rs1295769740 0.00001
NM_000815.5(GABRD):c.960C>T (p.Phe320=) rs201101812 0.00001
NM_000815.5(GABRD):c.972C>G (p.Ala324=) rs368765147 0.00001
NM_000815.5(GABRD):c.992C>G (p.Ala331Gly) rs1164930036 0.00001
NM_000815.5(GABRD):c.99C>T (p.Gly33=) rs761436257 0.00001
NC_000001.10:g.(?_1950843)_(1961741_?)dup
NC_000001.11:g.(?_2019404)_(2030302_?)del
NC_000001.11:g.(?_2024922)_(2030302_?)dup
NM_000815.5(GABRD):c.1005C>G (p.Ala335=)
NM_000815.5(GABRD):c.1006G>A (p.Asp336Asn) rs1200416339
NM_000815.5(GABRD):c.1027G>C (p.Ala343Pro) rs749316684
NM_000815.5(GABRD):c.1029C>G (p.Ala343=)
NM_000815.5(GABRD):c.1031A>T (p.Lys344Met) rs1659031445
NM_000815.5(GABRD):c.1035C>G (p.Val345=)
NM_000815.5(GABRD):c.1049C>T (p.Pro350Leu)
NM_000815.5(GABRD):c.104A>G (p.Asn35Ser)
NM_000815.5(GABRD):c.1050G>A (p.Pro350=)
NM_000815.5(GABRD):c.1056_1059+15dup
NM_000815.5(GABRD):c.1059+17G>A
NM_000815.5(GABRD):c.105C>G (p.Asn35Lys)
NM_000815.5(GABRD):c.1060-13G>A
NM_000815.5(GABRD):c.1060-17C>A
NM_000815.5(GABRD):c.1060-3C>A
NM_000815.5(GABRD):c.1065C>G (p.Asp355Glu) rs1031482653
NM_000815.5(GABRD):c.1066G>A (p.Val356Met)
NM_000815.5(GABRD):c.1070G>A (p.Arg357Lys)
NM_000815.5(GABRD):c.1074C>T (p.Asn358=)
NM_000815.5(GABRD):c.1089C>G (p.Phe363Leu) rs1359928378
NM_000815.5(GABRD):c.1097_1098del (p.Ser366fs)
NM_000815.5(GABRD):c.1105G>T (p.Gly369Cys) rs759836961
NM_000815.5(GABRD):c.1107C>T (p.Gly369=)
NM_000815.5(GABRD):c.1112C>T (p.Thr371Met)
NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg) rs1659040935
NM_000815.5(GABRD):c.1125C>T (p.Ala375=)
NM_000815.5(GABRD):c.1133G>T (p.Arg378Leu)
NM_000815.5(GABRD):c.1136G>A (p.Arg379Gln) rs369490217
NM_000815.5(GABRD):c.1136G>C (p.Arg379Pro)
NM_000815.5(GABRD):c.1141C>T (p.Arg381Cys) rs773818258
NM_000815.5(GABRD):c.1142G>A (p.Arg381His)
NM_000815.5(GABRD):c.1144C>T (p.Arg382Cys) rs1434291863
NM_000815.5(GABRD):c.1145G>A (p.Arg382His)
NM_000815.5(GABRD):c.1145G>T (p.Arg382Leu)
NM_000815.5(GABRD):c.1146C>A (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1146C>T (p.Arg382=) rs374718450
NM_000815.5(GABRD):c.1147G>A (p.Val383Ile)
NM_000815.5(GABRD):c.1149C>G (p.Val383=)
NM_000815.5(GABRD):c.1160T>A (p.Leu387Gln)
NM_000815.5(GABRD):c.1170C>T (p.Ser390=)
NM_000815.5(GABRD):c.1174A>G (p.Arg392Gly) rs1553123940
NM_000815.5(GABRD):c.1178C>T (p.Ser393Leu)
NM_000815.5(GABRD):c.1183G>C (p.Gly395Arg) rs763081509
NM_000815.5(GABRD):c.1186G>T (p.Val396Leu)
NM_000815.5(GABRD):c.1194A>C (p.Thr398=)
NM_000815.5(GABRD):c.1195G>A (p.Gly399Arg) rs1571033517
NM_000815.5(GABRD):c.1202C>G (p.Thr401Arg) rs116604393
NM_000815.5(GABRD):c.1214G>T (p.Gly405Val)
NM_000815.5(GABRD):c.1218A>G (p.Ala406=) rs1395046821
NM_000815.5(GABRD):c.1233C>T (p.Gly411=) rs1052967348
NM_000815.5(GABRD):c.1239G>A (p.Gly413=)
NM_000815.5(GABRD):c.1241G>A (p.Gly414Asp)
NM_000815.5(GABRD):c.1245C>T (p.Ile415=)
NM_000815.5(GABRD):c.1247G>C (p.Arg416Pro) rs1011029441
NM_000815.5(GABRD):c.1264A>G (p.Ile422Val)
NM_000815.5(GABRD):c.1266C>T (p.Ile422=)
NM_000815.5(GABRD):c.1273G>A (p.Asp425Asn) rs1380198645
NM_000815.5(GABRD):c.1290C>T (p.Tyr430=)
NM_000815.5(GABRD):c.1294C>G (p.Arg432Gly) rs1002172902
NM_000815.5(GABRD):c.1294C>T (p.Arg432Cys) rs1002172902
NM_000815.5(GABRD):c.1295G>A (p.Arg432His)
NM_000815.5(GABRD):c.1300G>A (p.Val434Met)
NM_000815.5(GABRD):c.1307C>T (p.Pro436Leu)
NM_000815.5(GABRD):c.1310C>T (p.Ala437Val)
NM_000815.5(GABRD):c.1314G>C (p.Ala438=)
NM_000815.5(GABRD):c.1319C>T (p.Ala440Val) rs866487320
NM_000815.5(GABRD):c.1320G>A (p.Ala440=)
NM_000815.5(GABRD):c.1323C>G (p.Ala441=)
NM_000815.5(GABRD):c.1324G>A (p.Val442Ile) rs756881793
NM_000815.5(GABRD):c.1330G>A (p.Val444Ile) rs1659053261
NM_000815.5(GABRD):c.1345G>T (p.Ala449Ser)
NM_000815.5(GABRD):c.137G>A (p.Gly46Glu) rs1441811312
NM_000815.5(GABRD):c.14C>T (p.Ala5Val)
NM_000815.5(GABRD):c.154G>T (p.Ala52Ser)
NM_000815.5(GABRD):c.162C>T (p.Asn54=)
NM_000815.5(GABRD):c.16C>G (p.Arg6Gly) rs1658714306
NM_000815.5(GABRD):c.173G>A (p.Gly58Asp)
NM_000815.5(GABRD):c.181+10G>C rs774122718
NM_000815.5(GABRD):c.181+13C>A
NM_000815.5(GABRD):c.182-12C>A
NM_000815.5(GABRD):c.182-8C>T rs2102147456
NM_000815.5(GABRD):c.183C>T (p.Gly61=)
NM_000815.5(GABRD):c.186C>A (p.Pro62=)
NM_000815.5(GABRD):c.187C>G (p.Pro63Ala)
NM_000815.5(GABRD):c.189C>A (p.Pro63=) rs771923214
NM_000815.5(GABRD):c.189C>T (p.Pro63=)
NM_000815.5(GABRD):c.195T>A (p.Asn65Lys)
NM_000815.5(GABRD):c.201C>G (p.Ala67=)
NM_000815.5(GABRD):c.202C>A (p.Leu68Ile) rs1658892135
NM_000815.5(GABRD):c.216G>A (p.Val72=)
NM_000815.5(GABRD):c.21G>T (p.Leu7=)
NM_000815.5(GABRD):c.225C>T (p.Ile75=)
NM_000815.5(GABRD):c.232A>G (p.Ile78Val)
NM_000815.5(GABRD):c.250-13G>A
NM_000815.5(GABRD):c.250-14T>G rs1456692553
NM_000815.5(GABRD):c.250-16T>C
NM_000815.5(GABRD):c.250-1G>A
NM_000815.5(GABRD):c.250-3C>T
NM_000815.5(GABRD):c.273G>A (p.Leu91=)
NM_000815.5(GABRD):c.282C>T (p.Ser94=) rs1310692550
NM_000815.5(GABRD):c.294C>T (p.Ser98=)
NM_000815.5(GABRD):c.29C>T (p.Pro10Leu)
NM_000815.5(GABRD):c.30G>A (p.Pro10=)
NM_000815.5(GABRD):c.314C>T (p.Thr105Ile)
NM_000815.5(GABRD):c.319G>A (p.Glu107Lys)
NM_000815.5(GABRD):c.332T>G (p.Leu111Arg) rs2102147878
NM_000815.5(GABRD):c.340C>T (p.Arg114Cys) rs1373382584
NM_000815.5(GABRD):c.345C>T (p.Phe115=)
NM_000815.5(GABRD):c.366C>T (p.Pro122=)
NM_000815.5(GABRD):c.372C>G (p.Thr124=)
NM_000815.5(GABRD):c.379G>A (p.Val127Met) rs562124721
NM_000815.5(GABRD):c.387C>A (p.Ala129=) rs1277746264
NM_000815.5(GABRD):c.389A>C (p.Lys130Thr)
NM_000815.5(GABRD):c.392C>T (p.Ser131Leu) rs201306411
NM_000815.5(GABRD):c.406G>A (p.Asp136Asn) rs1420010820
NM_000815.5(GABRD):c.430_432dup (p.Ile144_Arg145insIle)
NM_000815.5(GABRD):c.444C>G (p.Pro148=)
NM_000815.5(GABRD):c.450C>T (p.Gly150=)
NM_000815.5(GABRD):c.457C>T (p.Leu153=)
NM_000815.5(GABRD):c.459G>A (p.Leu153=) rs1217947626
NM_000815.5(GABRD):c.470+10C>G rs760581006
NM_000815.5(GABRD):c.470+19C>T
NM_000815.5(GABRD):c.471-20T>G
NM_000815.5(GABRD):c.477C>T (p.Thr159=)
NM_000815.5(GABRD):c.479C>T (p.Ser160Phe) rs2102150266
NM_000815.5(GABRD):c.483T>C (p.Thr161=)
NM_000815.5(GABRD):c.49C>A (p.Gln17Lys)
NM_000815.5(GABRD):c.523G>A (p.Glu175Lys) rs1658963820
NM_000815.5(GABRD):c.543C>T (p.Asp181=)
NM_000815.5(GABRD):c.54G>T (p.Gln18His)
NM_000815.5(GABRD):c.553+16A>G
NM_000815.5(GABRD):c.553+18G>C
NM_000815.5(GABRD):c.553+20G>A
NM_000815.5(GABRD):c.553+9G>T
NM_000815.5(GABRD):c.554-20C>T
NM_000815.5(GABRD):c.554-7C>T rs773941254
NM_000815.5(GABRD):c.556G>A (p.Gly186Ser)
NM_000815.5(GABRD):c.564A>G (p.Ser188=) rs554663245
NM_000815.5(GABRD):c.567G>A (p.Ser189=)
NM_000815.5(GABRD):c.56T>G (p.Leu19Arg)
NM_000815.5(GABRD):c.574A>G (p.Ile192Val) rs766753329
NM_000815.5(GABRD):c.576C>T (p.Ile192=)
NM_000815.5(GABRD):c.591G>A (p.Ser197=) rs756079485
NM_000815.5(GABRD):c.59G>A (p.Arg20His)
NM_000815.5(GABRD):c.604C>G (p.His202Asp)
NM_000815.5(GABRD):c.60C>G (p.Arg20=) rs1337443605
NM_000815.5(GABRD):c.60C>T (p.Arg20=)
NM_000815.5(GABRD):c.61G>A (p.Gly21Ser) rs1214046618
NM_000815.5(GABRD):c.627G>C (p.Leu209=)
NM_000815.5(GABRD):c.636G>A (p.Ala212=)
NM_000815.5(GABRD):c.638A>G (p.Gln213Arg) rs1557447332
NM_000815.5(GABRD):c.649A>T (p.Thr217Ser) rs1658982650
NM_000815.5(GABRD):c.64A>G (p.Thr22Ala)
NM_000815.5(GABRD):c.651dup (p.Ser218fs) rs2102151065
NM_000815.5(GABRD):c.664A>G (p.Thr222Ala)
NM_000815.5(GABRD):c.669G>A (p.Thr223=) rs763261978
NM_000815.5(GABRD):c.66C>G (p.Thr22=)
NM_000815.5(GABRD):c.67A>G (p.Arg23Gly)
NM_000815.5(GABRD):c.68+12_68+14del
NM_000815.5(GABRD):c.68+14G>C
NM_000815.5(GABRD):c.68+20G>A
NM_000815.5(GABRD):c.68+7G>T
NM_000815.5(GABRD):c.69-20C>T
NM_000815.5(GABRD):c.69-6C>A
NM_000815.5(GABRD):c.69-7T>C rs2102146941
NM_000815.5(GABRD):c.691+11C>A
NM_000815.5(GABRD):c.691+13C>T rs544531983
NM_000815.5(GABRD):c.691+14_691+57dup rs1252094812
NM_000815.5(GABRD):c.691+16C>T
NM_000815.5(GABRD):c.691+19C>A
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGC rs2102151165
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGC rs2102151165
NM_000815.5(GABRD):c.691+28_691+49del
NM_000815.5(GABRD):c.691+28_691+49dup rs769061415
NM_000815.5(GABRD):c.691+57_691+58insGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCC
NM_000815.5(GABRD):c.696C>T (p.Gly232=) rs144046110
NM_000815.5(GABRD):c.718C>T (p.His240Tyr) rs1659011884
NM_000815.5(GABRD):c.720C>T (p.His240=)
NM_000815.5(GABRD):c.722T>G (p.Phe241Cys)
NM_000815.5(GABRD):c.731G>A (p.Arg244Gln)
NM_000815.5(GABRD):c.733A>G (p.Arg245Gly)
NM_000815.5(GABRD):c.739C>T (p.Arg247Cys)
NM_000815.5(GABRD):c.742G>A (p.Gly248Ser)
NM_000815.5(GABRD):c.744C>G (p.Gly248=) rs760689938
NM_000815.5(GABRD):c.747G>A (p.Val249=) rs199993714
NM_000815.5(GABRD):c.751ATC[1] (p.Ile252del) rs1201664324
NM_000815.5(GABRD):c.758A>T (p.Gln253Leu)
NM_000815.5(GABRD):c.766A>G (p.Met256Val)
NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)
NM_000815.5(GABRD):c.778C>T (p.Leu260=)
NM_000815.5(GABRD):c.80A>G (p.Asp27Gly)
NM_000815.5(GABRD):c.818A>G (p.Gln273Arg)
NM_000815.5(GABRD):c.819G>C (p.Gln273His) rs1659015905
NM_000815.5(GABRD):c.81C>T (p.Asp27=)
NM_000815.5(GABRD):c.821C>T (p.Ala274Val) rs749733672
NM_000815.5(GABRD):c.823G>A (p.Ala275Thr)
NM_000815.5(GABRD):c.825G>A (p.Ala275=)
NM_000815.5(GABRD):c.838G>C (p.Val280Leu)
NM_000815.5(GABRD):c.847+15C>T
NM_000815.5(GABRD):c.847+16G>A
NM_000815.5(GABRD):c.847+4C>T
NM_000815.5(GABRD):c.847+7G>C rs1452430582
NM_000815.5(GABRD):c.848-17C>T
NM_000815.5(GABRD):c.848-19C>T
NM_000815.5(GABRD):c.848-5G>A
NM_000815.5(GABRD):c.848-9G>A rs1659025020
NM_000815.5(GABRD):c.858G>A (p.Thr286=) rs372178849
NM_000815.5(GABRD):c.858G>C (p.Thr286=) rs372178849
NM_000815.5(GABRD):c.867G>A (p.Thr289=) rs150619024
NM_000815.5(GABRD):c.867G>C (p.Thr289=)
NM_000815.5(GABRD):c.869_871del (p.Met290del)
NM_000815.5(GABRD):c.875C>T (p.Thr292Met)
NM_000815.5(GABRD):c.876G>A (p.Thr292=)
NM_000815.5(GABRD):c.888T>C (p.Ser296=)
NM_000815.5(GABRD):c.88G>A (p.Asp30Asn) rs74786356
NM_000815.5(GABRD):c.896C>T (p.Ser299Phe)
NM_000815.5(GABRD):c.907C>T (p.Arg303Trp)
NM_000815.5(GABRD):c.909G>A (p.Arg303=) rs2102152967
NM_000815.5(GABRD):c.909G>T (p.Arg303=)
NM_000815.5(GABRD):c.928C>T (p.Leu310=) rs745961044
NM_000815.5(GABRD):c.939C>T (p.Tyr313=)
NM_000815.5(GABRD):c.967G>A (p.Ala323Thr)
NM_000815.5(GABRD):c.967G>T (p.Ala323Ser)
NM_000815.5(GABRD):c.968C>T (p.Ala323Val)
NM_000815.5(GABRD):c.969C>A (p.Ala323=) rs146381127
NM_000815.5(GABRD):c.985G>A (p.Ala329Thr)

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.