ClinVar Miner

List of variants studied for deafness-lymphedema-leukemia syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 357
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_128202693)_(128205884_?)dup
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128481009)_(128487041_?)dup
NC_000003.12:g.(?_128486793)_(128487041_?)del
NM_001145661.2(GATA2):c.*183C>T rs45598538
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_001145661.2(GATA2):c.1017+513G>A rs948289045
NM_001145661.2(GATA2):c.1017+527G>A rs1559985804
NM_001145661.2(GATA2):c.1017+572C>T rs1559985787
NM_001145661.2(GATA2):c.1017+8C>T rs200848213
NM_001145661.2(GATA2):c.1018-5C>T rs769196688
NM_001145661.2(GATA2):c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) rs1553770524
NM_001145661.2(GATA2):c.101T>C (p.Met34Thr) rs1576749857
NM_001145661.2(GATA2):c.1020G>A (p.Ser340=) rs370166358
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_001145661.2(GATA2):c.1023C>T (p.Ala341=) rs376360090
NM_001145661.2(GATA2):c.1024G>A (p.Ala342Thr) rs751285156
NM_001145661.2(GATA2):c.1024G>T (p.Ala342Ser) rs751285156
NM_001145661.2(GATA2):c.1025C>T (p.Ala342Val) rs143554523
NM_001145661.2(GATA2):c.1035C>G (p.Ala345=) rs371599112
NM_001145661.2(GATA2):c.1035C>T (p.Ala345=) rs371599112
NM_001145661.2(GATA2):c.1036G>A (p.Gly346Ser) rs1559985135
NM_001145661.2(GATA2):c.1038C>T (p.Gly346=) rs1175250743
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1064C>A (p.Thr355Lys) rs1060500085
NM_001145661.2(GATA2):c.1075T>G (p.Leu359Val) rs1060500091
NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410
NM_001145661.2(GATA2):c.108C>G (p.Pro36=) rs1553771148
NM_001145661.2(GATA2):c.1090G>A (p.Ala364Thr) rs766504293
NM_001145661.2(GATA2):c.1095C>T (p.Asn365=) rs146814201
NM_001145661.2(GATA2):c.1113C>T (p.Asn371=) rs376003468
NM_001145661.2(GATA2):c.1121G>A (p.Gly374Asp) rs1559985057
NM_001145661.2(GATA2):c.1128C>T (p.Tyr376=) rs750890699
NM_001145661.2(GATA2):c.1143+203A>G rs2713604
NM_001145661.2(GATA2):c.1143+9G>A rs533617078
NM_001145661.2(GATA2):c.1143T>C (p.Asn381=) rs1576745111
NM_001145661.2(GATA2):c.1144G>T (p.Val382Phe) rs1559984811
NM_001145661.2(GATA2):c.114G>A (p.Gln38=) rs775573177
NM_001145661.2(GATA2):c.1160C>A (p.Thr387Asn) rs1060500092
NM_001145661.2(GATA2):c.1160_1168del (p.Thr387_Lys389del) rs1553770444
NM_001145661.2(GATA2):c.1173A>G (p.Glu391=) rs145076941
NM_001145661.2(GATA2):c.1179C>G (p.Ile393Met) rs1553770437
NM_001145661.2(GATA2):c.1185T>C (p.Thr395=) rs771739064
NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_001145661.2(GATA2):c.11C>A (p.Ala4Glu) rs1576750043
NM_001145661.2(GATA2):c.1200G>A (p.Met400Ile) rs1060500086
NM_001145661.2(GATA2):c.1217A>T (p.Lys406Met) rs756096688
NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) rs143590990
NM_001145661.2(GATA2):c.1230G>T (p.Gly410=) rs1461907039
NM_001145661.2(GATA2):c.1232C>A (p.Ala411Glu) rs374457534
NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val) rs374457534
NM_001145661.2(GATA2):c.1236G>T (p.Glu412Asp) rs1559984721
NM_001145661.2(GATA2):c.1238G>A (p.Cys413Tyr) rs1283468852
NM_001145661.2(GATA2):c.1242C>G (p.Phe414Leu) rs751577185
NM_001145661.2(GATA2):c.1243G>A (p.Glu415Lys) rs1345163538
NM_001145661.2(GATA2):c.1248G>C (p.Glu416Asp) rs1553770425
NM_001145661.2(GATA2):c.1263G>A (p.Met421Ile) rs1553770422
NM_001145661.2(GATA2):c.1273T>C (p.Ser425Pro) rs753159607
NM_001145661.2(GATA2):c.1274C>T (p.Ser425Leu) rs146554939
NM_001145661.2(GATA2):c.1282T>A (p.Phe428Ile) rs909675639
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) rs201155045
NM_001145661.2(GATA2):c.1300G>C (p.Ala434Pro) rs1576744335
NM_001145661.2(GATA2):c.1302T>G (p.Ala434=) rs971128233
NM_001145661.2(GATA2):c.1312G>T (p.Ala438Ser) rs768399393
NM_001145661.2(GATA2):c.1315C>T (p.Pro439Ser) rs1576744314
NM_001145661.2(GATA2):c.1320G>A (p.Val440=) rs775080624
NM_001145661.2(GATA2):c.1326C>T (p.His442=) rs886057929
NM_001145661.2(GATA2):c.1329C>G (p.Leu443=) rs769577309
NM_001145661.2(GATA2):c.1331C>T (p.Pro444Leu) rs781161922
NM_001145661.2(GATA2):c.1347C>A (p.Ser449=) rs150052821
NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg) rs370164300
NM_001145661.2(GATA2):c.1359G>A (p.Leu453=) rs878855168
NM_001145661.2(GATA2):c.1360C>T (p.Pro454Ser) rs774297463
NM_001145661.2(GATA2):c.1367C>T (p.Pro456Leu) rs372912472
NM_001145661.2(GATA2):c.136G>A (p.Asp46Asn) rs370750401
NM_001145661.2(GATA2):c.1370C>T (p.Thr457Met) rs139415862
NM_001145661.2(GATA2):c.1372C>T (p.Pro458Ser) rs1169516070
NM_001145661.2(GATA2):c.1380C>T (p.His460=) rs1033366779
NM_001145661.2(GATA2):c.1385C>A (p.Ser462Tyr) rs1559984575
NM_001145661.2(GATA2):c.1391G>T (p.Ser464Ile) rs770949428
NM_001145661.2(GATA2):c.139G>A (p.Val47Ile) rs1553771139
NM_001145661.2(GATA2):c.1402G>A (p.Gly468Ser) rs777726701
NM_001145661.2(GATA2):c.1415C>T (p.Pro472Leu) rs779338723
NM_001145661.2(GATA2):c.1416G>A (p.Pro472=) rs376805544
NM_001145661.2(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_001145661.2(GATA2):c.1428G>A (p.Val476=) rs1553770387
NM_001145661.2(GATA2):c.142T>A (p.Phe48Ile) rs878855170
NM_001145661.2(GATA2):c.1431C>T (p.Thr477=) rs754297885
NM_001145661.2(GATA2):c.149A>G (p.Asn50Ser) rs1576749789
NM_001145661.2(GATA2):c.153C>T (p.His51=) rs1416891061
NM_001145661.2(GATA2):c.156C>G (p.Leu52=) rs201821076
NM_001145661.2(GATA2):c.15_16delinsGC (p.Glu6Gln) rs1576750018
NM_001145661.2(GATA2):c.160T>G (p.Ser54Ala) rs1576749771
NM_001145661.2(GATA2):c.16G>A (p.Glu6Lys) rs760132552
NM_001145661.2(GATA2):c.176A>G (p.Tyr59Cys) rs140047487
NM_001145661.2(GATA2):c.177C>T (p.Tyr59=) rs146150325
NM_001145661.2(GATA2):c.182C>T (p.Ala61Val) rs375349195
NM_001145661.2(GATA2):c.204G>T (p.Ala68=) rs886057932
NM_001145661.2(GATA2):c.206G>A (p.Arg69His) rs1457679310
NM_001145661.2(GATA2):c.208G>T (p.Val70Phe) rs570531959
NM_001145661.2(GATA2):c.213C>T (p.Ser71=) rs759513417
NM_001145661.2(GATA2):c.224C>G (p.Ala75Gly) rs1559987952
NM_001145661.2(GATA2):c.227A>G (p.His76Arg) rs1576749657
NM_001145661.2(GATA2):c.23C>A (p.Pro8Gln) rs771557922
NM_001145661.2(GATA2):c.242G>C (p.Gly81Ala) rs1060500083
NM_001145661.2(GATA2):c.255C>T (p.Cys85=) rs1553771065
NM_001145661.2(GATA2):c.278C>A (p.Pro93Gln) rs1269493584
NM_001145661.2(GATA2):c.279G>A (p.Pro93=) rs142993548
NM_001145661.2(GATA2):c.279G>T (p.Pro93=) rs142993548
NM_001145661.2(GATA2):c.28T>C (p.Trp10Arg) rs1576749993
NM_001145661.2(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_001145661.2(GATA2):c.302G>A (p.Gly101Asp) rs1553771053
NM_001145661.2(GATA2):c.30G>T (p.Trp10Cys) rs367785289
NM_001145661.2(GATA2):c.310G>T (p.Ala104Ser) rs1060500089
NM_001145661.2(GATA2):c.311C>T (p.Ala104Val) rs760660470
NM_001145661.2(GATA2):c.327G>A (p.Ala109=) rs373506586
NM_001145661.2(GATA2):c.333C>T (p.His111=) rs148554346
NM_001145661.2(GATA2):c.338A>G (p.His113Arg) rs1576749120
NM_001145661.2(GATA2):c.358C>T (p.Pro120Ser) rs144794596
NM_001145661.2(GATA2):c.363C>T (p.Phe121=) rs1352824690
NM_001145661.2(GATA2):c.371C>A (p.Thr124Lys) rs569301892
NM_001145661.2(GATA2):c.375A>C (p.Pro125=) rs763281230
NM_001145661.2(GATA2):c.380A>G (p.His127Arg) rs1576749074
NM_001145661.2(GATA2):c.397G>A (p.Gly133Ser) rs1468344279
NM_001145661.2(GATA2):c.409C>T (p.Pro137Ser) rs113166293
NM_001145661.2(GATA2):c.40C>T (p.Pro14Ser) rs749214277
NM_001145661.2(GATA2):c.413T>C (p.Leu138Pro) rs746362966
NM_001145661.2(GATA2):c.419T>C (p.Val140Ala) rs1576749003
NM_001145661.2(GATA2):c.423C>T (p.Tyr141=) rs781744898
NM_001145661.2(GATA2):c.425C>T (p.Pro142Leu) rs1308814048
NM_001145661.2(GATA2):c.42G>T (p.Pro14=) rs372722885
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) rs753645971
NM_001145661.2(GATA2):c.455G>A (p.Ser152Asn) rs1576748936
NM_001145661.2(GATA2):c.456C>A (p.Ser152Arg) rs750384699
NM_001145661.2(GATA2):c.457G>A (p.Gly153Arg) rs369637181
NM_001145661.2(GATA2):c.45C>G (p.Ala15=) rs1278414376
NM_001145661.2(GATA2):c.469G>T (p.Ala157Ser) rs1559987441
NM_001145661.2(GATA2):c.480C>T (p.Thr160=) rs199640729
NM_001145661.2(GATA2):c.481C>G (p.Pro161Ala) rs34799090
NM_001145661.2(GATA2):c.481C>T (p.Pro161Ser) rs34799090
NM_001145661.2(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_001145661.2(GATA2):c.495C>A (p.His165Gln) rs887833751
NM_001145661.2(GATA2):c.50T>A (p.Leu17Gln) rs777965976
NM_001145661.2(GATA2):c.523C>T (p.Pro175Ser) rs779526840
NM_001145661.2(GATA2):c.532C>T (p.Pro178Ser) rs757177579
NM_001145661.2(GATA2):c.539A>C (p.Glu180Ala) rs1028518743
NM_001145661.2(GATA2):c.541G>A (p.Val181Met) rs1060500093
NM_001145661.2(GATA2):c.560C>G (p.Thr187Ser) rs1553770972
NM_001145661.2(GATA2):c.564G>C (p.Thr188=) rs34870876
NM_001145661.2(GATA2):c.567G>T (p.Gly189=) rs1293644494
NM_001145661.2(GATA2):c.568G>A (p.Ala190Thr) rs202162468
NM_001145661.2(GATA2):c.575C>T (p.Ser192Phe) rs773786765
NM_001145661.2(GATA2):c.592G>A (p.Ala198Thr) rs1576748685
NM_001145661.2(GATA2):c.593C>T (p.Ala198Val) rs745726293
NM_001145661.2(GATA2):c.596G>T (p.Gly199Val) rs780930549
NM_001145661.2(GATA2):c.599G>A (p.Gly200Asp) rs373477245
NM_001145661.2(GATA2):c.59A>C (p.Gln20Pro) rs1303947441
NM_001145661.2(GATA2):c.616G>C (p.Glu206Gln) rs1060500087
NM_001145661.2(GATA2):c.625G>A (p.Asp209Asn) rs998737902
NM_001145661.2(GATA2):c.628G>A (p.Gly210Ser) rs765555593
NM_001145661.2(GATA2):c.629_631dup (p.Gly210dup) rs1553770955
NM_001145661.2(GATA2):c.62A>T (p.His21Leu) rs1576749923
NM_001145661.2(GATA2):c.631G>C (p.Val211Leu) rs1060500088
NM_001145661.2(GATA2):c.636G>T (p.Lys212Asn) rs1576748594
NM_001145661.2(GATA2):c.639C>T (p.Tyr213=) rs372455331
NM_001145661.2(GATA2):c.63C>T (p.His21=) rs535362527
NM_001145661.2(GATA2):c.649C>T (p.Leu217=) rs369356562
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_001145661.2(GATA2):c.654G>A (p.Thr218=) rs34632959
NM_001145661.2(GATA2):c.657G>A (p.Glu219=) rs138688940
NM_001145661.2(GATA2):c.65C>G (p.Pro22Arg) rs1430054108
NM_001145661.2(GATA2):c.661A>C (p.Met221Leu) rs1252930387
NM_001145661.2(GATA2):c.669G>A (p.Met223Ile) rs140382420
NM_001145661.2(GATA2):c.66C>G (p.Pro22=) rs113384352
NM_001145661.2(GATA2):c.674G>A (p.Ser225Asn) rs146116228
NM_001145661.2(GATA2):c.682C>A (p.Pro228Thr) rs375298899
NM_001145661.2(GATA2):c.684C>T (p.Pro228=) rs913494641
NM_001145661.2(GATA2):c.688C>T (p.Arg230Cys) rs769473824
NM_001145661.2(GATA2):c.689G>A (p.Arg230His) rs1265283318
NM_001145661.2(GATA2):c.706A>C (p.Met236Leu) rs746737860
NM_001145661.2(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_001145661.2(GATA2):c.707T>C (p.Met236Thr) rs61754578
NM_001145661.2(GATA2):c.70_71insTGT (p.Ser24_His25insLeu) rs1559988114
NM_001145661.2(GATA2):c.710G>A (p.Gly237Asp) rs191501191
NM_001145661.2(GATA2):c.724A>G (p.Thr242Ala) rs886057931
NM_001145661.2(GATA2):c.727C>T (p.His243Tyr) rs1576748504
NM_001145661.2(GATA2):c.729C>G (p.His243Gln) rs369673069
NM_001145661.2(GATA2):c.729C>T (p.His243=) rs369673069
NM_001145661.2(GATA2):c.743C>T (p.Thr248Ile) rs1428619448
NM_001145661.2(GATA2):c.748C>G (p.Pro250Ala) rs78245253
NM_001145661.2(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_001145661.2(GATA2):c.755A>G (p.Tyr252Cys) rs1060500090
NM_001145661.2(GATA2):c.761C>G (p.Pro254Arg) rs387906630
NM_001145661.2(GATA2):c.76C>A (p.His26Asn) rs1576749889
NM_001145661.2(GATA2):c.787G>A (p.Gly263Arg) rs587778378
NM_001145661.2(GATA2):c.792C>T (p.Leu264=) rs1060503831
NM_001145661.2(GATA2):c.801C>T (p.Pro267=) rs376351188
NM_001145661.2(GATA2):c.803G>T (p.Gly268Val) rs1576748419
NM_001145661.2(GATA2):c.809T>G (p.Phe270Cys) rs776267955
NM_001145661.2(GATA2):c.815G>A (p.Gly272Glu) rs770511115
NM_001145661.2(GATA2):c.818G>T (p.Gly273Val) rs1559986940
NM_001145661.2(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_001145661.2(GATA2):c.829A>G (p.Ser277Gly) rs141800945
NM_001145661.2(GATA2):c.832T>A (p.Phe278Ile) rs1449079964
NM_001145661.2(GATA2):c.848G>A (p.Arg283His) rs1576748346
NM_001145661.2(GATA2):c.84C>T (p.Gly28=) rs761369956
NM_001145661.2(GATA2):c.852C>T (p.Ser284=) rs1282036381
NM_001145661.2(GATA2):c.860G>A (p.Arg287His) rs1004873472
NM_001145661.2(GATA2):c.872-5T>G rs886038417
NM_001145661.2(GATA2):c.888C>T (p.Val296=) rs574218913
NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_001145661.2(GATA2):c.920G>A (p.Arg307Gln) rs1559986102
NM_001145661.2(GATA2):c.927C>T (p.Asp309=) rs750077677
NM_001145661.2(GATA2):c.933C>T (p.Thr311=) rs774280897
NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.100A>T (p.Met34Leu)
NM_032638.5(GATA2):c.1017+518T>G rs1576746428
NM_032638.5(GATA2):c.1017+525C>T rs916833024
NM_032638.5(GATA2):c.1017+526C>T rs1051590739
NM_032638.5(GATA2):c.1018-10G>A rs1211623638
NM_032638.5(GATA2):c.1018-6_1018-3dup rs1576745326
NM_032638.5(GATA2):c.1021_1023GCC[3] (p.Ala342dup)
NM_032638.5(GATA2):c.1024dup (p.Ala342fs)
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1040_1041delinsAT (p.Thr347Asn)
NM_032638.5(GATA2):c.1053T>C (p.Asn351=) rs544866789
NM_032638.5(GATA2):c.106C>G (p.Pro36Ala)
NM_032638.5(GATA2):c.1077A>T (p.Leu359Phe)
NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup)
NM_032638.5(GATA2):c.1094A>G (p.Asn365Ser)
NM_032638.5(GATA2):c.1102C>G (p.Pro368Ala)
NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr)
NM_032638.5(GATA2):c.1134G>A (p.Lys378=) rs1397473749
NM_032638.5(GATA2):c.1143+8C>T rs555534597
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser)
NM_032638.5(GATA2):c.1166_1181delinsCATG (p.Lys389_Gln394delinsThrTrp)
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln)
NM_032638.5(GATA2):c.1205A>G (p.Asn402Ser)
NM_032638.5(GATA2):c.1206C>T (p.Asn402=) rs376420351
NM_032638.5(GATA2):c.121C>T (p.Pro41Ser)
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218
NM_032638.5(GATA2):c.123T>C (p.Pro41=) rs1022734850
NM_032638.5(GATA2):c.1261A>T (p.Met421Leu)
NM_032638.5(GATA2):c.1280C>G (p.Pro427Arg)
NM_032638.5(GATA2):c.1286G>A (p.Ser429Asn)
NM_032638.5(GATA2):c.1289C>T (p.Ala430Val)
NM_032638.5(GATA2):c.1318G>A (p.Val440Met)
NM_032638.5(GATA2):c.1323C>T (p.Gly441=) rs1280205763
NM_032638.5(GATA2):c.1332G>A (p.Pro444=) rs770768777
NM_032638.5(GATA2):c.1347C>T (p.Ser449=) rs150052821
NM_032638.5(GATA2):c.1356C>T (p.Ile452=) rs1576744250
NM_032638.5(GATA2):c.1368G>A (p.Pro456=) rs569990126
NM_032638.5(GATA2):c.1371G>A (p.Thr457=) rs763539605
NM_032638.5(GATA2):c.1376T>A (p.Ile459Asn)
NM_032638.5(GATA2):c.1376T>C (p.Ile459Thr)
NM_032638.5(GATA2):c.1401C>T (p.Phe467=) rs534807053
NM_032638.5(GATA2):c.140T>G (p.Val47Gly)
NM_032638.5(GATA2):c.1411C>T (p.His471Tyr)
NM_032638.5(GATA2):c.1427T>C (p.Val476Ala)
NM_032638.5(GATA2):c.1433C>T (p.Ala478Val)
NM_032638.5(GATA2):c.144C>T (p.Phe48=) rs1576749792
NM_032638.5(GATA2):c.147C>A (p.Phe49Leu)
NM_032638.5(GATA2):c.165G>A (p.Gln55=) rs1012472046
NM_032638.5(GATA2):c.170A>C (p.Asn57Thr)
NM_032638.5(GATA2):c.172C>T (p.Pro58Ser)
NM_032638.5(GATA2):c.179A>G (p.Tyr60Cys)
NM_032638.5(GATA2):c.183C>T (p.Ala61=) rs1304934410
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys)
NM_032638.5(GATA2):c.186C>T (p.Asn62=) rs751200779
NM_032638.5(GATA2):c.187C>G (p.Pro63Ala)
NM_032638.5(GATA2):c.188C>G (p.Pro63Arg)
NM_032638.5(GATA2):c.189C>A (p.Pro63=)
NM_032638.5(GATA2):c.189C>T (p.Pro63=) rs763735447
NM_032638.5(GATA2):c.190G>T (p.Ala64Ser)
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)
NM_032638.5(GATA2):c.223G>A (p.Ala75Thr)
NM_032638.5(GATA2):c.224C>T (p.Ala75Val)
NM_032638.5(GATA2):c.230-12_230-9del rs760230147
NM_032638.5(GATA2):c.239C>A (p.Thr80Asn)
NM_032638.5(GATA2):c.23C>T (p.Pro8Leu)
NM_032638.5(GATA2):c.248A>C (p.Gln83Pro)
NM_032638.5(GATA2):c.248A>G (p.Gln83Arg)
NM_032638.5(GATA2):c.257G>A (p.Arg86His)
NM_032638.5(GATA2):c.279G>C (p.Pro93=) rs142993548
NM_032638.5(GATA2):c.281G>T (p.Gly94Val)
NM_032638.5(GATA2):c.308C>T (p.Ala103Val)
NM_032638.5(GATA2):c.326C>T (p.Ala109Val)
NM_032638.5(GATA2):c.331_333CAC[2] (p.His113del)
NM_032638.5(GATA2):c.341A>G (p.Asn114Ser)
NM_032638.5(GATA2):c.365C>G (p.Ser122Cys)
NM_032638.5(GATA2):c.371C>T (p.Thr124Met)
NM_032638.5(GATA2):c.381C>T (p.His127=) rs1576749068
NM_032638.5(GATA2):c.383C>T (p.Pro128Leu)
NM_032638.5(GATA2):c.39C>A (p.His13Gln)
NM_032638.5(GATA2):c.424C>G (p.Pro142Ala)
NM_032638.5(GATA2):c.431C>G (p.Ala144Gly)
NM_032638.5(GATA2):c.437G>T (p.Gly146Val)
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly)
NM_032638.5(GATA2):c.446G>C (p.Gly149Ala)
NM_032638.5(GATA2):c.45C>A (p.Ala15=)
NM_032638.5(GATA2):c.46G>A (p.Val16Met)
NM_032638.5(GATA2):c.487G>A (p.Ala163Thr)
NM_032638.5(GATA2):c.49C>T (p.Leu17=) rs752025757
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala)
NM_032638.5(GATA2):c.508C>A (p.Leu170Ile)
NM_032638.5(GATA2):c.524C>T (p.Pro175Leu)
NM_032638.5(GATA2):c.536A>G (p.Lys179Arg)
NM_032638.5(GATA2):c.539A>G (p.Glu180Gly)
NM_032638.5(GATA2):c.544T>C (p.Ser182Pro)
NM_032638.5(GATA2):c.553C>A (p.Pro185Thr)
NM_032638.5(GATA2):c.568G>T (p.Ala190Ser)
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr)
NM_032638.5(GATA2):c.592G>C (p.Ala198Pro)
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala)
NM_032638.5(GATA2):c.611G>A (p.Arg204Gln)
NM_032638.5(GATA2):c.619G>A (p.Asp207Asn)
NM_032638.5(GATA2):c.627C>T (p.Asp209=) rs370923405
NM_032638.5(GATA2):c.63C>A (p.His21Gln)
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser)
NM_032638.5(GATA2):c.67G>T (p.Asp23Tyr)
NM_032638.5(GATA2):c.680G>A (p.Ser227Asn)
NM_032638.5(GATA2):c.700G>A (p.Ala234Thr)
NM_032638.5(GATA2):c.719C>T (p.Pro240Leu)
NM_032638.5(GATA2):c.71C>T (p.Ser24Leu)
NM_032638.5(GATA2):c.722C>T (p.Ala241Val)
NM_032638.5(GATA2):c.732C>G (p.His244Gln)
NM_032638.5(GATA2):c.733C>T (p.Pro245Ser)
NM_032638.5(GATA2):c.740C>T (p.Pro247Leu)
NM_032638.5(GATA2):c.742A>T (p.Thr248Ser)
NM_032638.5(GATA2):c.753C>T (p.Ser251=) rs1450460950
NM_032638.5(GATA2):c.756T>C (p.Tyr252=) rs750736371
NM_032638.5(GATA2):c.762G>A (p.Pro254=)
NM_032638.5(GATA2):c.775G>A (p.Asp259Asn)
NM_032638.5(GATA2):c.776A>G (p.Asp259Gly)
NM_032638.5(GATA2):c.778_780del (p.Tyr260del)
NM_032638.5(GATA2):c.779A>G (p.Tyr260Cys)
NM_032638.5(GATA2):c.788G>C (p.Gly263Ala)
NM_032638.5(GATA2):c.790C>T (p.Leu264Phe)
NM_032638.5(GATA2):c.798C>A (p.His266Gln)
NM_032638.5(GATA2):c.800C>G (p.Pro267Arg)
NM_032638.5(GATA2):c.814G>C (p.Gly272Arg)
NM_032638.5(GATA2):c.815G>C (p.Gly272Ala)
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn)
NM_032638.5(GATA2):c.856G>C (p.Ala286Pro)
NM_032638.5(GATA2):c.867T>C (p.Cys289=) rs756397780
NM_032638.5(GATA2):c.871+4A>G
NM_032638.5(GATA2):c.871+8C>T
NM_032638.5(GATA2):c.872-1G>C
NM_032638.5(GATA2):c.872-9C>A rs1462260680
NM_032638.5(GATA2):c.8T>C (p.Val3Ala)
NM_032638.5(GATA2):c.905C>T (p.Ala302Val)
NM_032638.5(GATA2):c.90G>C (p.Ala30=) rs768357019
NM_032638.5(GATA2):c.945G>C (p.Leu315=) rs947420881
NM_032638.5(GATA2):c.950A>G (p.Asn317Ser)
NM_032638.5(GATA2):c.960C>T (p.Gly320=) rs762957000
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862

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