ClinVar Miner

List of variants in gene GATA2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00834
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.30G>T (p.Trp10Cys) rs367785289 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.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) rs770949428 0.00004
NM_032638.5(GATA2):c.*73C>T rs886057928 0.00003
NM_032638.5(GATA2):c.1206C>T (p.Asn402=) rs376420351 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu) rs781161922 0.00003
NM_032638.5(GATA2):c.100A>T (p.Met34Leu) rs762794939 0.00002
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.176A>G (p.Tyr59Cys) rs140047487 0.00002
NM_032638.5(GATA2):c.40C>T (p.Pro14Ser) rs749214277 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.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1025C>T (p.Ala342Val) rs143554523 0.00001
NM_032638.5(GATA2):c.1090G>A (p.Ala364Thr) rs766504293 0.00001
NM_032638.5(GATA2):c.1096G>A (p.Gly366Arg) rs758912342 0.00001
NM_032638.5(GATA2):c.1128C>T (p.Tyr376=) rs750890699 0.00001
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser) rs2068625752 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.1312G>T (p.Ala438Ser) rs768399393 0.00001
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala) rs2068622107 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.175T>A (p.Tyr59Asn) rs2068707978 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.303C>T (p.Gly101=) rs1399106413 0.00001
NM_032638.5(GATA2):c.311C>T (p.Ala104Val) rs760660470 0.00001
NM_032638.5(GATA2):c.336C>G (p.His112Gln) rs2068697916 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.633C>G (p.Val211=) rs375773132 0.00001
NM_032638.5(GATA2):c.674G>A (p.Ser225Asn) rs146116228 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.732C>G (p.His244Gln) rs954005309 0.00001
NM_032638.5(GATA2):c.928G>A (p.Gly310Ser) rs1262581730 0.00001
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) rs1480450110 0.00001
NM_032638.5(GATA2):c.-45G>T
NM_032638.5(GATA2):c.100A>G (p.Met34Val) rs762794939
NM_032638.5(GATA2):c.1016T>C (p.Leu339Pro) rs2472924515
NM_032638.5(GATA2):c.1017+565_1017+566del rs1246380412
NM_032638.5(GATA2):c.1017+573G>C
NM_032638.5(GATA2):c.102G>A (p.Met34Ile) rs2107673586
NM_032638.5(GATA2):c.1032A>G (p.Arg344=) rs2068635192
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.1084C>G (p.Arg362Gly)
NM_032638.5(GATA2):c.1094A>G (p.Asn365Ser) rs773430309
NM_032638.5(GATA2):c.1136T>C (p.Leu379Pro)
NM_032638.5(GATA2):c.1154C>T (p.Pro385Leu) rs2107668121
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.1162A>G (p.Met388Val) rs2107668104
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.1205A>G (p.Asn402Ser) rs375927513
NM_032638.5(GATA2):c.1238G>A (p.Cys413Tyr) rs1283468852
NM_032638.5(GATA2):c.1273T>C (p.Ser425Pro) rs753159607
NM_032638.5(GATA2):c.1273T>G (p.Ser425Ala)
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.1339A>C (p.Ser447Arg) rs1576744275
NM_032638.5(GATA2):c.1356C>T (p.Ile452=) rs1576744250
NM_032638.5(GATA2):c.1363A>G (p.Thr455Ala) rs755408952
NM_032638.5(GATA2):c.1373C>T (p.Pro458Leu) rs2107667728
NM_032638.5(GATA2):c.1381C>G (p.Pro461Ala)
NM_032638.5(GATA2):c.1385C>A (p.Ser462Tyr) rs1559984575
NM_032638.5(GATA2):c.1414C>T (p.Pro472Ser)
NM_032638.5(GATA2):c.1415C>T (p.Pro472Leu) rs779338723
NM_032638.5(GATA2):c.1429A>G (p.Thr477Ala) rs2107667621
NM_032638.5(GATA2):c.1432G>A (p.Ala478Thr)
NM_032638.5(GATA2):c.14_15inv (p.Pro5Arg)
NM_032638.5(GATA2):c.171C>G (p.Asn57Lys) rs2068708105
NM_032638.5(GATA2):c.190G>T (p.Ala64Ser) rs370831063
NM_032638.5(GATA2):c.233G>T (p.Arg78Leu) rs867138640
NM_032638.5(GATA2):c.257G>A (p.Arg86His) rs2068699579
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val) rs1060500084
NM_032638.5(GATA2):c.319G>A (p.Ala107Thr) rs2107672841
NM_032638.5(GATA2):c.31A>T (p.Met11Leu)
NM_032638.5(GATA2):c.341A>G (p.Asn114Ser) rs2068697781
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.46G>A (p.Val16Met) rs781485787
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.544T>C (p.Ser182Pro) rs1294359651
NM_032638.5(GATA2):c.576_578del (p.Pro193del)
NM_032638.5(GATA2):c.596G>T (p.Gly199Val) rs780930549
NM_032638.5(GATA2):c.598G>A (p.Gly200Ser)
NM_032638.5(GATA2):c.61C>T (p.His21Tyr) rs1416953141
NM_032638.5(GATA2):c.64C>A (p.Pro22Thr) rs1172590651
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) rs1172590651
NM_032638.5(GATA2):c.657G>T (p.Glu219Asp) rs138688940
NM_032638.5(GATA2):c.65C>T (p.Pro22Leu) rs1430054108
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.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.75C>G (p.His25Gln) rs1190021538
NM_032638.5(GATA2):c.778_780del (p.Tyr260del) rs747128645
NM_032638.5(GATA2):c.782G>A (p.Ser261Asn) rs1559987003
NM_032638.5(GATA2):c.785G>A (p.Ser262Asn) rs1305082777
NM_032638.5(GATA2):c.792C>T (p.Leu264=) rs1060503831
NM_032638.5(GATA2):c.821C>G (p.Pro274Arg)
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 rs1372175745
NM_032638.5(GATA2):c.962_963insAGT (p.Leu321_Tyr322insVal) rs2107670384
NM_032638.5(GATA2):c.965A>G (p.Tyr322Cys) rs2472924680
NM_032638.5(GATA2):c.989G>T (p.Arg330Leu) rs2107670339

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