ClinVar Miner

List of variants studied for Intellectual disability by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=) rs2229944 0.11079
NM_001371727.1(GABRB2):c.542-11T>C rs10052441 0.08647
NM_001371727.1(GABRB2):c.438C>G (p.Gly146=) rs2964779 0.00576
NM_001371727.1(GABRB2):c.984C>T (p.Tyr328=) rs140538607 0.00124
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=) rs145570974 0.00103
NM_001371727.1(GABRB2):c.423C>G (p.Arg141=) rs147449850 0.00098
NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=) rs146425610 0.00046
NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn) rs61735410 0.00038
NM_001371727.1(GABRB2):c.609G>A (p.Thr203=) rs138163747 0.00026
NM_001371727.1(GABRB2):c.573C>T (p.Tyr191=) rs199576643 0.00020
NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=) rs142424271 0.00018
NM_001371727.1(GABRB2):c.77+18T>C rs200524787 0.00017
NM_001371727.1(GABRB2):c.1060C>T (p.Arg354Cys) rs41298406 0.00014
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp) rs140795978 0.00014
NM_001371727.1(GABRB2):c.1479A>T (p.Ile493=) rs750111998 0.00011
NM_001371727.1(GABRB2):c.462C>T (p.Ile154=) rs148320584 0.00011
NM_001371727.1(GABRB2):c.1191G>A (p.Thr397=) rs373911261 0.00008
NM_001371727.1(GABRB2):c.1373G>A (p.Arg458Gln) rs80241240 0.00008
NM_001371727.1(GABRB2):c.237+12C>T rs371694224 0.00007
NM_001371727.1(GABRB2):c.372C>T (p.Asn124=) rs138299514 0.00007
NM_001371727.1(GABRB2):c.594A>G (p.Ala198=) rs761307384 0.00007
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His) rs371217448 0.00006
NM_001371727.1(GABRB2):c.1103A>G (p.Asn368Ser) rs768489439 0.00006
NM_001371727.1(GABRB2):c.1190C>T (p.Thr397Met) rs375083192 0.00006
NM_001371727.1(GABRB2):c.1334G>A (p.Gly445Glu) rs781071477 0.00006
NM_001371727.1(GABRB2):c.285G>A (p.Arg95=) rs144053366 0.00006
NM_001371727.1(GABRB2):c.542-8T>C rs546965842 0.00006
NM_001371727.1(GABRB2):c.624A>G (p.Pro208=) rs1174338619 0.00006
NM_001371727.1(GABRB2):c.1014A>G (p.Gln338=) rs747854210 0.00005
NM_001371727.1(GABRB2):c.1063C>T (p.Leu355=) rs764159075 0.00005
NM_001371727.1(GABRB2):c.1192-12C>A rs375758935 0.00005
NM_001371727.1(GABRB2):c.1192-18G>T rs376744140 0.00005
NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro) rs200591388 0.00005
NM_001371727.1(GABRB2):c.1358G>A (p.Arg453Gln) rs371728438 0.00005
NM_001371727.1(GABRB2):c.1009C>T (p.Arg337Cys) rs777778428 0.00004
NM_001371727.1(GABRB2):c.1174G>A (p.Asp392Asn) rs150956270 0.00004
NM_001371727.1(GABRB2):c.1377T>C (p.His459=) rs201342925 0.00004
NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=) rs536960677 0.00004
NM_001371727.1(GABRB2):c.1530T>C (p.Tyr510=) rs200872771 0.00004
NM_001371727.1(GABRB2):c.357T>C (p.Asp119=) rs756503577 0.00004
NM_001371727.1(GABRB2):c.78-19T>C rs202028432 0.00004
NM_001371727.1(GABRB2):c.1118G>A (p.Arg373Gln) rs202183786 0.00003
NM_001371727.1(GABRB2):c.1143C>T (p.Asn381=) rs908738518 0.00003
NM_001371727.1(GABRB2):c.1153A>T (p.Thr385Ser) rs201397195 0.00003
NM_001371727.1(GABRB2):c.1410C>T (p.Arg470=) rs373821165 0.00003
NM_001371727.1(GABRB2):c.393C>T (p.His131=) rs755211861 0.00003
NM_001371727.1(GABRB2):c.441C>T (p.Thr147=) rs370578958 0.00003
NM_001371727.1(GABRB2):c.789C>A (p.Ser263=) rs755694724 0.00003
NM_001371727.1(GABRB2):c.85G>T (p.Asp29Tyr) rs775606746 0.00003
NM_001371727.1(GABRB2):c.998G>C (p.Arg333Thr) rs776801560 0.00003
NM_001371727.1(GABRB2):c.1160G>A (p.Arg387Gln) rs369113102 0.00002
NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg) rs1435021718 0.00002
NM_001371727.1(GABRB2):c.1411G>A (p.Ala471Thr) rs140153076 0.00002
NM_001371727.1(GABRB2):c.1434C>T (p.Ile478=) rs754964208 0.00002
NM_001371727.1(GABRB2):c.1510A>G (p.Ile504Val) rs753338867 0.00002
NM_001371727.1(GABRB2):c.1518T>C (p.Tyr506=) rs753233146 0.00002
NM_001371727.1(GABRB2):c.172C>G (p.Pro58Ala) rs769551029 0.00002
NM_001371727.1(GABRB2):c.238-18T>C rs1485793918 0.00002
NM_001371727.1(GABRB2):c.459-15C>T rs759328020 0.00002
NM_001371727.1(GABRB2):c.60C>T (p.Ala20=) rs763231952 0.00002
NM_001371727.1(GABRB2):c.720A>G (p.Arg240=) rs756982726 0.00002
NM_001371727.1(GABRB2):c.1010G>A (p.Arg337His) rs769682551 0.00001
NM_001371727.1(GABRB2):c.1017G>A (p.Lys339=) rs1289875232 0.00001
NM_001371727.1(GABRB2):c.1077+6T>C rs993294374 0.00001
NM_001371727.1(GABRB2):c.1078-9G>A rs538734649 0.00001
NM_001371727.1(GABRB2):c.1093A>G (p.Ile365Val) rs776347142 0.00001
NM_001371727.1(GABRB2):c.10G>A (p.Val4Met) rs368787045 0.00001
NM_001371727.1(GABRB2):c.1117C>T (p.Arg373Ter) rs745319567 0.00001
NM_001371727.1(GABRB2):c.1144C>T (p.Leu382Phe) rs756481987 0.00001
NM_001371727.1(GABRB2):c.1154C>G (p.Thr385Ser) rs373905764 0.00001
NM_001371727.1(GABRB2):c.1169A>G (p.Asn390Ser) rs201129022 0.00001
NM_001371727.1(GABRB2):c.1173C>T (p.Tyr391=) rs753777522 0.00001
NM_001371727.1(GABRB2):c.1192-6T>G rs759226981 0.00001
NM_001371727.1(GABRB2):c.1200C>G (p.Pro400=) rs770453629 0.00001
NM_001371727.1(GABRB2):c.1203T>C (p.His401=) rs762487283 0.00001
NM_001371727.1(GABRB2):c.1204G>A (p.Glu402Lys) rs78789939 0.00001
NM_001371727.1(GABRB2):c.1280C>T (p.Pro427Leu) rs762381690 0.00001
NM_001371727.1(GABRB2):c.1320G>A (p.Gln440=) rs1184212049 0.00001
NM_001371727.1(GABRB2):c.1324C>T (p.Arg442Trp) rs1407862838 0.00001
NM_001371727.1(GABRB2):c.1325G>A (p.Arg442Gln) rs779091017 0.00001
NM_001371727.1(GABRB2):c.1378G>A (p.Val460Met) rs982764804 0.00001
NM_001371727.1(GABRB2):c.1381G>T (p.Ala461Ser) rs1580953898 0.00001
NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val) rs952831120 0.00001
NM_001371727.1(GABRB2):c.1397G>A (p.Arg466His) rs772293871 0.00001
NM_001371727.1(GABRB2):c.1401G>A (p.Leu467=) rs746150630 0.00001
NM_001371727.1(GABRB2):c.1419A>G (p.Gln473=) rs749301985 0.00001
NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile) rs781122974 0.00001
NM_001371727.1(GABRB2):c.1509C>T (p.Asn503=) rs756795443 0.00001
NM_001371727.1(GABRB2):c.1513G>A (p.Val505Ile) rs1218503196 0.00001
NM_001371727.1(GABRB2):c.170-4G>T rs545803508 0.00001
NM_001371727.1(GABRB2):c.180G>T (p.Val60=) rs1208230748 0.00001
NM_001371727.1(GABRB2):c.237+18T>C rs749857323 0.00001
NM_001371727.1(GABRB2):c.282G>A (p.Lys94=) rs771570156 0.00001
NM_001371727.1(GABRB2):c.288G>A (p.Leu96=) rs1345898045 0.00001
NM_001371727.1(GABRB2):c.458+9T>C rs1414682600 0.00001
NM_001371727.1(GABRB2):c.45C>T (p.Phe15=) rs759095506 0.00001
NM_001371727.1(GABRB2):c.46C>G (p.Pro16Ala) rs775021096 0.00001
NM_001371727.1(GABRB2):c.513A>G (p.Glu171=) rs370168508 0.00001
NM_001371727.1(GABRB2):c.541+7C>G rs373480281 0.00001
NM_001371727.1(GABRB2):c.542-16A>G rs1554094288 0.00001
NM_001371727.1(GABRB2):c.542-19T>C rs913562341 0.00001
NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys) rs193920932 0.00001
NM_001371727.1(GABRB2):c.582C>A (p.Gly194=) rs750096691 0.00001
NM_001371727.1(GABRB2):c.608C>T (p.Thr203Met) rs772591708 0.00001
NM_001371727.1(GABRB2):c.615T>C (p.Ile205=) rs1400169299 0.00001
NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg) rs1273884286 0.00001
NM_001371727.1(GABRB2):c.679+7A>T rs1285127035 0.00001
NM_001371727.1(GABRB2):c.69T>C (p.Cys23=) rs1486789918 0.00001
NM_001371727.1(GABRB2):c.744A>G (p.Gln248=) rs935553427 0.00001
NM_001371727.1(GABRB2):c.77+16G>T rs778830538 0.00001
NM_001371727.1(GABRB2):c.804C>T (p.Tyr268=) rs370057910 0.00001
NM_001371727.1(GABRB2):c.813A>T (p.Ser271=) rs367813708 0.00001
NM_001371727.1(GABRB2):c.832+3A>G rs77398862 0.00001
NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val) rs1021186046 0.00001
NM_001371727.1(GABRB2):c.88C>T (p.Pro30Ser) rs1760987338 0.00001
NM_001371727.1(GABRB2):c.89C>T (p.Pro30Leu) rs749288718 0.00001
NM_001371727.1(GABRB2):c.936C>T (p.Cys312=) rs181644032 0.00001
NM_001371727.1(GABRB2):c.996G>A (p.Gly332=) rs762087070 0.00001
NM_001371727.1(GABRB2):c.9A>T (p.Arg3Ser) rs967225542 0.00001
NC_000005.9:g.(?_160721068)_(160721455_?)dup
NC_000005.9:g.(?_160721068)_(160763796_?)dup
NC_000005.9:g.(?_160721088)_(161324428_?)dup
NM_001371727.1(GABRB2):c.1008A>T (p.Gln336His)
NM_001371727.1(GABRB2):c.102G>A (p.Ser34=) rs2113490210
NM_001371727.1(GABRB2):c.1039A>G (p.Ser347Gly) rs780941452
NM_001371727.1(GABRB2):c.103C>T (p.Leu35=) rs1581075337
NM_001371727.1(GABRB2):c.1040G>A (p.Ser347Asn) rs1753820203
NM_001371727.1(GABRB2):c.1056G>A (p.Lys352=) rs2113397440
NM_001371727.1(GABRB2):c.1057A>T (p.Met353Leu) rs1014388930
NM_001371727.1(GABRB2):c.1060C>A (p.Arg354Ser) rs41298406
NM_001371727.1(GABRB2):c.1061G>T (p.Arg354Leu) rs371217448
NM_001371727.1(GABRB2):c.1065G>A (p.Leu355=)
NM_001371727.1(GABRB2):c.1066G>A (p.Asp356Asn) rs1753818114
NM_001371727.1(GABRB2):c.1077+12G>A
NM_001371727.1(GABRB2):c.1077+14G>A
NM_001371727.1(GABRB2):c.1080T>A (p.Ile360=)
NM_001371727.1(GABRB2):c.1088A>G (p.Lys363Arg) rs1561608651
NM_001371727.1(GABRB2):c.1094T>G (p.Ile365Ser) rs1758366511
NM_001371727.1(GABRB2):c.1108A>G (p.Thr370Ala) rs143130991
NM_001371727.1(GABRB2):c.1117C>A (p.Arg373=) rs745319567
NM_001371727.1(GABRB2):c.1118G>T (p.Arg373Leu)
NM_001371727.1(GABRB2):c.1121C>T (p.Ser374Phe) rs775375467
NM_001371727.1(GABRB2):c.1125G>T (p.Leu375Phe)
NM_001371727.1(GABRB2):c.1146C>T (p.Leu382=) rs1266441926
NM_001371727.1(GABRB2):c.1153A>G (p.Thr385Ala) rs201397195
NM_001371727.1(GABRB2):c.1155T>C (p.Thr385=) rs1273490114
NM_001371727.1(GABRB2):c.1168A>C (p.Asn390His) rs1026621473
NM_001371727.1(GABRB2):c.1171T>C (p.Tyr391His) rs1580981280
NM_001371727.1(GABRB2):c.1174G>C (p.Asp392His) rs150956270
NM_001371727.1(GABRB2):c.1178T>C (p.Phe393Ser) rs2113389282
NM_001371727.1(GABRB2):c.117G>A (p.Thr39=) rs866058026
NM_001371727.1(GABRB2):c.117G>C (p.Thr39=)
NM_001371727.1(GABRB2):c.1191+12A>T
NM_001371727.1(GABRB2):c.1191+13G>A
NM_001371727.1(GABRB2):c.1192-3C>T
NM_001371727.1(GABRB2):c.1192-7C>G
NM_001371727.1(GABRB2):c.1192-7C>T rs2113334075
NM_001371727.1(GABRB2):c.1197C>T (p.Asp399=)
NM_001371727.1(GABRB2):c.1198C>A (p.Pro400Thr) rs1757325283
NM_001371727.1(GABRB2):c.1210A>G (p.Ile404Val)
NM_001371727.1(GABRB2):c.1217T>A (p.Leu406Gln)
NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)
NM_001371727.1(GABRB2):c.1231A>G (p.Ile411Val) rs2113333920
NM_001371727.1(GABRB2):c.1243A>G (p.Met415Val) rs1338788033
NM_001371727.1(GABRB2):c.1249A>G (p.Thr417Ala)
NM_001371727.1(GABRB2):c.1252T>C (p.Ser418Pro)
NM_001371727.1(GABRB2):c.1256A>T (p.Glu419Val) rs1757322902
NM_001371727.1(GABRB2):c.1257G>A (p.Glu419=)
NM_001371727.1(GABRB2):c.1260T>G (p.Ala420=) rs778879790
NM_001371727.1(GABRB2):c.1274G>C (p.Gly425Ala) rs2113333823
NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn) rs1580954153
NM_001371727.1(GABRB2):c.1290A>C (p.Thr430=)
NM_001371727.1(GABRB2):c.1293G>A (p.Met431Ile)
NM_001371727.1(GABRB2):c.1296A>G (p.Leu432=) rs2113333752
NM_001371727.1(GABRB2):c.1301A>T (p.Tyr434Phe)
NM_001371727.1(GABRB2):c.1303G>A (p.Asp435Asn)
NM_001371727.1(GABRB2):c.1310C>G (p.Ser437Cys) rs772398405
NM_001371727.1(GABRB2):c.1310C>T (p.Ser437Phe) rs772398405
NM_001371727.1(GABRB2):c.1317C>T (p.Ile439=)
NM_001371727.1(GABRB2):c.1338G>A (p.Leu446=) rs1757319355
NM_001371727.1(GABRB2):c.1346A>G (p.His449Arg)
NM_001371727.1(GABRB2):c.1349G>C (p.Ser450Thr) rs61735410
NM_001371727.1(GABRB2):c.1357C>A (p.Arg453=) rs1461566727
NM_001371727.1(GABRB2):c.1364C>T (p.Ala455Val) rs2113333534
NM_001371727.1(GABRB2):c.1374A>G (p.Arg458=) rs764850270
NM_001371727.1(GABRB2):c.1380G>A (p.Val460=)
NM_001371727.1(GABRB2):c.1386A>T (p.Gln462His) rs2113333435
NM_001371727.1(GABRB2):c.1396C>T (p.Arg466Cys) rs2113333414
NM_001371727.1(GABRB2):c.1398C>T (p.Arg466=) rs2113333407
NM_001371727.1(GABRB2):c.1399C>T (p.Leu467=) rs2113333399
NM_001371727.1(GABRB2):c.13C>A (p.Arg5=)
NM_001371727.1(GABRB2):c.1411G>T (p.Ala471Ser)
NM_001371727.1(GABRB2):c.1413C>T (p.Ala471=) rs1757314735
NM_001371727.1(GABRB2):c.142G>C (p.Asp48His)
NM_001371727.1(GABRB2):c.146T>G (p.Ile49Ser) rs2113490140
NM_001371727.1(GABRB2):c.1475G>A (p.Arg492His) rs1757313373
NM_001371727.1(GABRB2):c.1501T>A (p.Phe501Ile) rs2113333244
NM_001371727.1(GABRB2):c.1512C>T (p.Ile504=)
NM_001371727.1(GABRB2):c.151C>A (p.Leu51Met) rs1760985866
NM_001371727.1(GABRB2):c.151C>G (p.Leu51Val) rs1760985866
NM_001371727.1(GABRB2):c.1529A>T (p.Tyr510Phe)
NM_001371727.1(GABRB2):c.1531G>A (p.Val511Met) rs77133486
NM_001371727.1(GABRB2):c.155G>C (p.Arg52Thr)
NM_001371727.1(GABRB2):c.169+5T>C
NM_001371727.1(GABRB2):c.170-14G>A
NM_001371727.1(GABRB2):c.170-14G>T
NM_001371727.1(GABRB2):c.170-3C>T
NM_001371727.1(GABRB2):c.170-9G>T rs1581074359
NM_001371727.1(GABRB2):c.172C>T (p.Pro58Ser) rs769551029
NM_001371727.1(GABRB2):c.177C>G (p.Pro59=) rs996258829
NM_001371727.1(GABRB2):c.181G>T (p.Ala61Ser) rs747969321
NM_001371727.1(GABRB2):c.190A>G (p.Met64Val) rs2113486772
NM_001371727.1(GABRB2):c.195C>T (p.Asn65=) rs1760943725
NM_001371727.1(GABRB2):c.196A>G (p.Ile66Val) rs2113486744
NM_001371727.1(GABRB2):c.197T>C (p.Ile66Thr) rs1760943617
NM_001371727.1(GABRB2):c.201C>T (p.Asp67=)
NM_001371727.1(GABRB2):c.204T>C (p.Ile68=) rs2113486725
NM_001371727.1(GABRB2):c.207C>T (p.Ala69=)
NM_001371727.1(GABRB2):c.213C>A (p.Ile71=) rs1351188868
NM_001371727.1(GABRB2):c.213C>T (p.Ile71=)
NM_001371727.1(GABRB2):c.224C>T (p.Ser75Phe)
NM_001371727.1(GABRB2):c.226G>C (p.Glu76Gln)
NM_001371727.1(GABRB2):c.228A>T (p.Glu76Asp)
NM_001371727.1(GABRB2):c.235A>T (p.Met79Leu)
NM_001371727.1(GABRB2):c.237+13A>G
NM_001371727.1(GABRB2):c.237+7A>G
NM_001371727.1(GABRB2):c.237G>A (p.Met79Ile)
NM_001371727.1(GABRB2):c.238-14T>C
NM_001371727.1(GABRB2):c.238-14del rs539366743
NM_001371727.1(GABRB2):c.238-14dup rs539366743
NM_001371727.1(GABRB2):c.238-19T>G
NM_001371727.1(GABRB2):c.238-9C>T rs76657179
NM_001371727.1(GABRB2):c.23del (p.Gly8fs) rs1581075690
NM_001371727.1(GABRB2):c.245C>A (p.Thr82Asn) rs1561658011
NM_001371727.1(GABRB2):c.253A>G (p.Met85Val)
NM_001371727.1(GABRB2):c.275G>A (p.Arg92Lys) rs1758064008
NM_001371727.1(GABRB2):c.301A>G (p.Ile101Val) rs2113264009
NM_001371727.1(GABRB2):c.304C>T (p.Pro102Ser)
NM_001371727.1(GABRB2):c.316A>C (p.Thr106Pro)
NM_001371727.1(GABRB2):c.366C>T (p.Phe122=)
NM_001371727.1(GABRB2):c.371A>G (p.Asn124Ser)
NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)
NM_001371727.1(GABRB2):c.377A>G (p.Lys126Arg)
NM_001371727.1(GABRB2):c.378G>A (p.Lys126=)
NM_001371727.1(GABRB2):c.381G>A (p.Lys127=)
NM_001371727.1(GABRB2):c.394G>A (p.Gly132Arg) rs868863837
NM_001371727.1(GABRB2):c.399G>A (p.Val133=) rs974021905
NM_001371727.1(GABRB2):c.417G>A (p.Met139Ile) rs78354289
NM_001371727.1(GABRB2):c.421C>T (p.Arg141Cys)
NM_001371727.1(GABRB2):c.422G>A (p.Arg141His) rs1554102156
NM_001371727.1(GABRB2):c.430C>A (p.Pro144Thr)
NM_001371727.1(GABRB2):c.435T>C (p.Asp145=) rs776727409
NM_001371727.1(GABRB2):c.441C>A (p.Thr147=)
NM_001371727.1(GABRB2):c.442G>A (p.Val148Ile) rs1581004188
NM_001371727.1(GABRB2):c.444C>T (p.Val148=) rs771899561
NM_001371727.1(GABRB2):c.458+20A>G
NM_001371727.1(GABRB2):c.458+3C>T rs2113263600
NM_001371727.1(GABRB2):c.458+4T>A
NM_001371727.1(GABRB2):c.458+4T>G rs2113263590
NM_001371727.1(GABRB2):c.458+5G>A rs1758060204
NM_001371727.1(GABRB2):c.459-13A>G
NM_001371727.1(GABRB2):c.459A>G (p.Arg153=) rs2113114646
NM_001371727.1(GABRB2):c.45C>G (p.Phe15Leu)
NM_001371727.1(GABRB2):c.468C>G (p.Thr156=)
NM_001371727.1(GABRB2):c.482T>C (p.Met161Thr) rs1057521979
NM_001371727.1(GABRB2):c.48C>T (p.Pro16=) rs1265831842
NM_001371727.1(GABRB2):c.490C>T (p.Leu164=)
NM_001371727.1(GABRB2):c.503del (p.Pro168fs)
NM_001371727.1(GABRB2):c.51A>C (p.Leu17Phe)
NM_001371727.1(GABRB2):c.51AAT[1] (p.Ile19del) rs761010140
NM_001371727.1(GABRB2):c.522C>T (p.Cys174=)
NM_001371727.1(GABRB2):c.535G>A (p.Glu179Lys)
NM_001371727.1(GABRB2):c.541+7C>T
NM_001371727.1(GABRB2):c.541+8G>A
NM_001371727.1(GABRB2):c.542-32GT[6] rs141330383
NM_001371727.1(GABRB2):c.542-32GT[7] rs141330383
NM_001371727.1(GABRB2):c.542-32GT[9] rs141330383
NM_001371727.1(GABRB2):c.542-3C>A
NM_001371727.1(GABRB2):c.553A>G (p.Thr185Ala)
NM_001371727.1(GABRB2):c.566A>T (p.Glu189Val) rs1754004974
NM_001371727.1(GABRB2):c.56T>C (p.Ile19Thr) rs2113490797
NM_001371727.1(GABRB2):c.578G>A (p.Arg193His) rs373324958
NM_001371727.1(GABRB2):c.582C>T (p.Gly194=) rs750096691
NM_001371727.1(GABRB2):c.583G>A (p.Asp195Asn)
NM_001371727.1(GABRB2):c.591T>A (p.Asn197Lys) rs1426438345
NM_001371727.1(GABRB2):c.61G>T (p.Ala21Ser)
NM_001371727.1(GABRB2):c.624A>T (p.Pro208=)
NM_001371727.1(GABRB2):c.625C>G (p.Gln209Glu) rs1554094279
NM_001371727.1(GABRB2):c.627_629del (p.Gln209_Phe210delinsHis) rs2113408160
NM_001371727.1(GABRB2):c.632C>T (p.Ser211Phe) rs2113408152
NM_001371727.1(GABRB2):c.639A>G (p.Val213=)
NM_001371727.1(GABRB2):c.658A>G (p.Lys220Glu) rs1754001197
NM_001371727.1(GABRB2):c.663G>C (p.Lys221Asn) rs777977171
NM_001371727.1(GABRB2):c.672T>A (p.Phe224Leu) rs2113408096
NM_001371727.1(GABRB2):c.679+7A>G rs1285127035
NM_001371727.1(GABRB2):c.680-16A>C rs1245747762
NM_001371727.1(GABRB2):c.680-20T>G
NM_001371727.1(GABRB2):c.680-2A>G rs1561612125
NM_001371727.1(GABRB2):c.680-3T>C rs763357499
NM_001371727.1(GABRB2):c.680-3T>G rs763357499
NM_001371727.1(GABRB2):c.685T>C (p.Tyr229His) rs2113405112
NM_001371727.1(GABRB2):c.689C>A (p.Pro230His) rs1753947094
NM_001371727.1(GABRB2):c.691A>G (p.Arg231Gly)
NM_001371727.1(GABRB2):c.693G>T (p.Arg231Ser)
NM_001371727.1(GABRB2):c.700C>T (p.Leu234Phe)
NM_001371727.1(GABRB2):c.70G>A (p.Ala24Thr)
NM_001371727.1(GABRB2):c.72G>A (p.Ala24=) rs776799573
NM_001371727.1(GABRB2):c.72G>T (p.Ala24=) rs776799573
NM_001371727.1(GABRB2):c.734T>G (p.Phe245Cys) rs1561612106
NM_001371727.1(GABRB2):c.73C>A (p.Gln25Lys)
NM_001371727.1(GABRB2):c.745A>G (p.Thr249Ala)
NM_001371727.1(GABRB2):c.755C>T (p.Pro252Leu) rs2113405030
NM_001371727.1(GABRB2):c.758C>G (p.Ser253Cys) rs1753945485
NM_001371727.1(GABRB2):c.75G>A (p.Gln25=) rs2113490694
NM_001371727.1(GABRB2):c.766A>G (p.Ile256Val)
NM_001371727.1(GABRB2):c.77+17T>C
NM_001371727.1(GABRB2):c.77+6T>A rs1760991511
NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)
NM_001371727.1(GABRB2):c.78-15C>A
NM_001371727.1(GABRB2):c.78-20A>G
NM_001371727.1(GABRB2):c.78-3T>C
NM_001371727.1(GABRB2):c.780C>A (p.Ser260=) rs1160036447
NM_001371727.1(GABRB2):c.780C>G (p.Ser260=) rs1160036447
NM_001371727.1(GABRB2):c.798T>G (p.Ile266Met)
NM_001371727.1(GABRB2):c.813A>C (p.Ser271=)
NM_001371727.1(GABRB2):c.815C>T (p.Ala272Val) rs1753943911
NM_001371727.1(GABRB2):c.828A>G (p.Ala276=)
NM_001371727.1(GABRB2):c.830T>C (p.Leu277Ser) rs1554094145
NM_001371727.1(GABRB2):c.832+16A>T rs1252746615
NM_001371727.1(GABRB2):c.832+9T>C rs1057522438
NM_001371727.1(GABRB2):c.833-11T>A rs1753825686
NM_001371727.1(GABRB2):c.833-14C>G rs2113397954
NM_001371727.1(GABRB2):c.833-14C>T rs2113397954
NM_001371727.1(GABRB2):c.833-4del rs777633076
NM_001371727.1(GABRB2):c.833-4dup
NM_001371727.1(GABRB2):c.838A>G (p.Thr280Ala) rs2113397917
NM_001371727.1(GABRB2):c.841A>G (p.Thr281Ala)
NM_001371727.1(GABRB2):c.842C>G (p.Thr281Ser) rs1753825061
NM_001371727.1(GABRB2):c.844G>T (p.Val282Phe) rs1561610490
NM_001371727.1(GABRB2):c.850A>G (p.Thr284Ala) rs1561610483
NM_001371727.1(GABRB2):c.854T>C (p.Met285Thr)
NM_001371727.1(GABRB2):c.857C>A (p.Thr286Asn) rs1753824585
NM_001371727.1(GABRB2):c.85G>A (p.Asp29Asn) rs775606746
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile) rs1753824440
NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr) rs1064795444
NM_001371727.1(GABRB2):c.876C>T (p.Leu292=)
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)
NM_001371727.1(GABRB2):c.878G>C (p.Arg293Pro)
NM_001371727.1(GABRB2):c.880dup (p.Glu294fs)
NM_001371727.1(GABRB2):c.881A>G (p.Glu294Gly) rs1014039541
NM_001371727.1(GABRB2):c.895A>T (p.Ile299Phe) rs1580984895
NM_001371727.1(GABRB2):c.901T>C (p.Tyr301His) rs2113397784
NM_001371727.1(GABRB2):c.902A>G (p.Tyr301Cys) rs1064794996
NM_001371727.1(GABRB2):c.902A>T (p.Tyr301Phe) rs1064794996
NM_001371727.1(GABRB2):c.903T>C (p.Tyr301=)
NM_001371727.1(GABRB2):c.907A>G (p.Lys303Glu)
NM_001371727.1(GABRB2):c.908A>C (p.Lys303Thr) rs1554093885
NM_001371727.1(GABRB2):c.909G>A (p.Lys303=) rs886039375
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr) rs1753822503
NM_001371727.1(GABRB2):c.933G>T (p.Gly311=) rs1276507834
NM_001371727.1(GABRB2):c.940G>C (p.Val314Leu)
NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile) rs1554093884
NM_001371727.1(GABRB2):c.95A>G (p.Asn32Ser)
NM_001371727.1(GABRB2):c.961C>T (p.Leu321=)
NM_001371727.1(GABRB2):c.981C>G (p.Asn327Lys) rs2113397640
NM_001371727.1(GABRB2):c.987_992del (p.Phe330_Phe331del) rs1753821539
NM_001371727.1(GABRB2):c.99del (p.Met33fs)

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