ClinVar Miner

List of variants in gene GATA2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1143+203A>G rs2713604 0.69604
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_032638.5(GATA2):c.872-187T>C rs2713602 0.61669
NM_032638.5(GATA2):c.1143+128C>T rs2713603 0.42696
NM_032638.5(GATA2):c.1018-226T>G rs11717152 0.23569
NM_032638.5(GATA2):c.*200C>T rs10934857 0.22831
NM_032638.5(GATA2):c.1018-19C>T rs11708606 0.17884
NM_032638.5(GATA2):c.490G>A (p.Ala164Thr) rs2335052 0.17829
NM_032638.5(GATA2):c.229+127C>T rs4577488 0.17609
NM_032638.5(GATA2):c.871+342C>T rs72983369 0.05503
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_032638.5(GATA2):c.230-194del rs147454351 0.01523
NM_032638.5(GATA2):c.1017+215C>T rs55665236 0.01484
NM_032638.5(GATA2):c.1018-194C>T rs140421363 0.00935
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_032638.5(GATA2):c.871+442G>C rs144923197 0.00604
NM_032638.5(GATA2):c.1143+193A>G rs375115092 0.00450
NM_032638.5(GATA2):c.*199C>G rs545460836 0.00433
NM_032638.5(GATA2):c.872-182C>G rs577184018 0.00326
NM_032638.5(GATA2):c.748C>G (p.Pro250Ala) rs78245253 0.00309
NM_032638.5(GATA2):c.*183C>T rs45598538 0.00308
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_032638.5(GATA2):c.-5C>G rs374415484 0.00260
NM_032638.5(GATA2):c.229+38C>T rs188629393 0.00119
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_032638.5(GATA2):c.279G>A (p.Pro93=) rs142993548 0.00051
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) rs376805544 0.00022
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_032638.5(GATA2):c.42G>T (p.Pro14=) rs372722885 0.00011
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_032638.5(GATA2):c.229+15C>G rs767013148 0.00008
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_032638.5(GATA2):c.189C>T (p.Pro63=) rs763735447 0.00007
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.1143+9G>A rs533617078 0.00004
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) rs770949428 0.00004
NM_032638.5(GATA2):c.543G>A (p.Val181=) rs547329727 0.00003
NM_032638.5(GATA2):c.1018-5C>T rs769196688 0.00002
NM_032638.5(GATA2):c.1370C>T (p.Thr457Met) rs139415862 0.00002
NM_032638.5(GATA2):c.142T>A (p.Phe48Ile) rs878855170 0.00002
NM_032638.5(GATA2):c.63C>T (p.His21=) rs535362527 0.00002
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) rs140382420 0.00002
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1025C>T (p.Ala342Val) rs143554523 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.1090G>A (p.Ala364Thr) rs766504293 0.00001
NM_032638.5(GATA2):c.1113C>T (p.Asn371=) rs376003468 0.00001
NM_032638.5(GATA2):c.1128C>T (p.Tyr376=) rs750890699 0.00001
NM_032638.5(GATA2):c.1143+13C>T rs112111696 0.00001
NM_032638.5(GATA2):c.1185T>C (p.Thr395=) rs771739064 0.00001
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.1376T>A (p.Ile459Asn) rs369407958 0.00001
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser) rs777726701 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) rs751200779 0.00001
NM_032638.5(GATA2):c.311C>T (p.Ala104Val) rs760660470 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 0.00001
NM_032638.5(GATA2):c.515G>C (p.Gly172Ala) rs768236530 0.00001
NM_032638.5(GATA2):c.582C>T (p.Ala194=) rs748710414 0.00001
NM_032638.5(GATA2):c.633C>G (p.Val211=) rs375773132 0.00001
NM_032638.5(GATA2):c.698T>C (p.Leu233Pro) rs1377041124 0.00001
NM_032638.5(GATA2):c.707T>C (p.Met236Thr) rs61754578 0.00001
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) rs1480450110 0.00001
NM_032638.5(GATA2):c.*100C>A
NM_032638.5(GATA2):c.*118C>T rs184208259
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1016T>C (p.Leu339Pro)
NM_032638.5(GATA2):c.1017+2T>A rs1576746830
NM_032638.5(GATA2):c.1017+565_1017+566del
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1018-2A>C rs1576745322
NM_032638.5(GATA2):c.1021del (p.Ala341fs) rs1576745308
NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs) rs1576745270
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1035C>G (p.Ala345=) rs371599112
NM_032638.5(GATA2):c.1036_1056dup (p.Gly346_Cys352dup) rs1576745241
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser) rs1576745252
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup) rs2068634140
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp) rs1559985057
NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter) rs750890699
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp) rs2107668593
NM_032638.5(GATA2):c.1143+242G>C
NM_032638.5(GATA2):c.1144-1G>C rs1576744604
NM_032638.5(GATA2):c.1144-1_1146del rs1576744594
NM_032638.5(GATA2):c.1154C>T (p.Pro385Leu) rs2107668121
NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs) rs1576744575
NM_032638.5(GATA2):c.1160_1165del (p.Thr387_Met388del) rs2107668101
NM_032638.5(GATA2):c.1161_1172del (p.Met388_Glu391del) rs2107668082
NM_032638.5(GATA2):c.1165AAG[1] (p.Lys390del) rs1576744556
NM_032638.5(GATA2):c.1165_1170del (p.Lys389_Lys390del) rs1576744556
NM_032638.5(GATA2):c.1178T>C (p.Ile393Thr) rs2068625277
NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly) rs1576744529
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu) rs1553770434
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1289C>T (p.Ala430Val) rs2068623044
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) rs1576744275
NM_032638.5(GATA2):c.1385C>A (p.Ser462Tyr) rs1559984575
NM_032638.5(GATA2):c.1429A>G (p.Thr477Ala) rs2107667621
NM_032638.5(GATA2):c.14_15inv (p.Pro5Arg)
NM_032638.5(GATA2):c.171C>G (p.Asn57Lys) rs2068708105
NM_032638.5(GATA2):c.175T>A (p.Tyr59Asn)
NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter) rs146150325
NM_032638.5(GATA2):c.319G>A (p.Ala107Thr) rs2107672841
NM_032638.5(GATA2):c.345dup (p.Trp116fs) rs1553771050
NM_032638.5(GATA2):c.35C>A (p.Ala12Glu) rs1263269900
NM_032638.5(GATA2):c.393TGGAGGCCC[1] (p.132GGP[1]) rs2068696512
NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs) rs1576749014
NM_032638.5(GATA2):c.437del (p.Gly146fs) rs2107672654
NM_032638.5(GATA2):c.484A>G (p.Thr162Ala) rs770215567
NM_032638.5(GATA2):c.494A>G (p.His165Arg) rs1559987389
NM_032638.5(GATA2):c.495C>T (p.His165=) rs887833751
NM_032638.5(GATA2):c.524C>G (p.Pro175Arg) rs755939655
NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs) rs1576748609
NM_032638.5(GATA2):c.561dup (p.Thr188fs) rs1576748738
NM_032638.5(GATA2):c.569_570insAAGC (p.Ala191fs)
NM_032638.5(GATA2):c.596G>T (p.Gly199Val) rs780930549
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter) rs1576748638
NM_032638.5(GATA2):c.61C>T (p.His21Tyr)
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) rs1553770949
NM_032638.5(GATA2):c.64C>A (p.Pro22Thr) rs1172590651
NM_032638.5(GATA2):c.655dup (p.Glu219fs) rs1576748582
NM_032638.5(GATA2):c.657G>T (p.Glu219Asp) rs138688940
NM_032638.5(GATA2):c.682C>T (p.Pro228Ser) rs375298899
NM_032638.5(GATA2):c.695G>C (p.Gly232Ala) rs2068689323
NM_032638.5(GATA2):c.697C>G (p.Leu233Val) rs745497331
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.778_780del (p.Tyr260del) rs747128645
NM_032638.5(GATA2):c.785G>A (p.Ser262Asn) rs1305082777
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter) rs764747992
NM_032638.5(GATA2):c.844C>T (p.Gln282Ter) rs1576748357
NM_032638.5(GATA2):c.852C>T (p.Ser284=) rs1282036381
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.872-13T>A
NM_032638.5(GATA2):c.872-158C>A rs2659689
NM_032638.5(GATA2):c.872-95C>G rs55914222
NM_032638.5(GATA2):c.880del (p.Glu294fs) rs2107670492
NM_032638.5(GATA2):c.890del (p.Asn297fs) rs1576746931
NM_032638.5(GATA2):c.894_895del (p.Cys298fs)
NM_032638.5(GATA2):c.915_916del (p.Trp306fs) rs2107670467
NM_032638.5(GATA2):c.953_977dup (p.Gly327fs) rs1576746848
NM_032638.5(GATA2):c.962_963insAGT (p.Leu321_Tyr322insVal) rs2107670384
NM_032638.5(GATA2):c.989G>T (p.Arg330Leu) rs2107670339
NM_032638.5(GATA2):c.995_996insG (p.Ile333fs) rs2107670326

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