ClinVar Miner

List of variants in gene GATA2 reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 156
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NC_000003.11:g.(?_128199862)_(128200787_?)del
NC_000003.11:g.(?_128199862)_(128205874_?)del
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1017+1del rs2107670301
NM_032638.5(GATA2):c.1017+2T>C rs1576746830
NM_032638.5(GATA2):c.1017+2T>G rs1576746830
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1018-10_1037del rs2107668773
NM_032638.5(GATA2):c.1018-11_1027del rs2107668823
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1018-2A>G rs1576745322
NM_032638.5(GATA2):c.1018-2A>T rs1576745322
NM_032638.5(GATA2):c.1018-3_1031del rs2107668806
NM_032638.5(GATA2):c.1018_1028del
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter) rs745439347
NM_032638.5(GATA2):c.1019_1020insCGACTGGGAGGGCAAGGCAG (p.Ala341fs) rs2107668860
NM_032638.5(GATA2):c.1019del (p.Ser340fs) rs2107668869
NM_032638.5(GATA2):c.1020_1029dup (p.Arg344fs) rs2107668812
NM_032638.5(GATA2):c.1021GCC[1] (p.Ala342del) rs2068635493
NM_032638.5(GATA2):c.1021_1024del (p.Ala341fs) rs869320770
NM_032638.5(GATA2):c.1021_1031del (p.Ala341fs) rs2107668805
NM_032638.5(GATA2):c.1021del (p.Ala341fs) rs1576745308
NM_032638.5(GATA2):c.1023_1026dup (p.Arg344fs) rs2107668827
NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs) rs1576745270
NM_032638.5(GATA2):c.1023del (p.Ala342fs) rs2107668848
NM_032638.5(GATA2):c.1023dup (p.Ala342fs) rs2107668848
NM_032638.5(GATA2):c.1024dup (p.Ala342fs) rs2068635607
NM_032638.5(GATA2):c.1025_1026insGCCG (p.Arg343fs) rs2107668832
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1031_1049del (p.Arg344fs) rs2107668749
NM_032638.5(GATA2):c.1035_1036insTCTGGCC (p.Gly346fs) rs2107668788
NM_032638.5(GATA2):c.1035_1038dup (p.Thr347fs) rs2107668769
NM_032638.5(GATA2):c.1038dup (p.Thr347fs)
NM_032638.5(GATA2):c.1041del (p.Cys348fs) rs2107668760
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1054del (p.Cys352fs) rs2107668739
NM_032638.5(GATA2):c.1060A>C (p.Thr354Pro) rs2107668727
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) rs1576745225
NM_032638.5(GATA2):c.1066ACC[2] (p.Thr358del) rs2107668693
NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn) rs148942346
NM_032638.5(GATA2):c.1082G>A (p.Arg361His) rs387906634
NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs)
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1099del (p.Asp367fs) rs2107668647
NM_032638.5(GATA2):c.1099dup (p.Asp367fs) rs2107668647
NM_032638.5(GATA2):c.1103_1104del (p.Pro368fs) rs2107668641
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1113del (p.Asn371fs) rs2107668634
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1122_1125dup (p.Tyr376fs) rs863224874
NM_032638.5(GATA2):c.1124del (p.Leu375fs) rs2107668601
NM_032638.5(GATA2):c.1126_1133dup (p.Lys378fs) rs2107668582
NM_032638.5(GATA2):c.1126_1143+54del
NM_032638.5(GATA2):c.1128C>G (p.Tyr376Ter) rs750890699
NM_032638.5(GATA2):c.1132A>T (p.Lys378Ter) rs2107668584
NM_032638.5(GATA2):c.1142del (p.Asn381fs) rs2107668566
NM_032638.5(GATA2):c.1143+200_1198del rs2107668041
NM_032638.5(GATA2):c.1143+2T>A rs2107668560
NM_032638.5(GATA2):c.1148dup (p.Asn383fs)
NM_032638.5(GATA2):c.1172_1175del (p.Glu391fs) rs2107668072
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)
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.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) rs1420609104
NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs)
NM_032638.5(GATA2):c.1200_1216dup (p.Lys406fs) rs2107668010
NM_032638.5(GATA2):c.1217del (p.Lys406fs)
NM_032638.5(GATA2):c.1281dup (p.Phe428fs) rs2107667915
NM_032638.5(GATA2):c.130G>T (p.Glu44Ter) rs2107673544
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) rs1576744275
NM_032638.5(GATA2):c.161C>A (p.Ser54Ter) rs2107673501
NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter) rs146150325
NM_032638.5(GATA2):c.17_18del (p.Glu6fs) rs2107673777
NM_032638.5(GATA2):c.202del (p.Ala68fs)
NM_032638.5(GATA2):c.206_208delinsT (p.Arg69fs) rs2107673392
NM_032638.5(GATA2):c.207_208del (p.Val70fs) rs2107673397
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) rs1254938356
NM_032638.5(GATA2):c.232dup (p.Arg78fs) rs1576749301
NM_032638.5(GATA2):c.243delinsGC (p.Gly82fs) rs869320735
NM_032638.5(GATA2):c.256del (p.Arg86fs) rs2107672967
NM_032638.5(GATA2):c.257_258del (p.Arg86fs) rs2107672963
NM_032638.5(GATA2):c.288_289del (p.Trp97fs)
NM_032638.5(GATA2):c.302del (p.Gly101fs) rs2107672888
NM_032638.5(GATA2):c.303del (p.Ala103fs) rs2107672881
NM_032638.5(GATA2):c.305_309del (p.Lys102fs)
NM_032638.5(GATA2):c.306del (p.Ala103fs) rs2107672869
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) rs1576749168
NM_032638.5(GATA2):c.317_318del (p.Ser106fs) rs2107672847
NM_032638.5(GATA2):c.318dup (p.Ala107fs) rs2107672844
NM_032638.5(GATA2):c.351C>G (p.Thr117=) rs2107672788
NM_032638.5(GATA2):c.353del (p.Val118fs) rs2107672783
NM_032638.5(GATA2):c.384dup (p.Ser129fs)
NM_032638.5(GATA2):c.404dup (p.Gly136fs) rs2107672730
NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs) rs1576749014
NM_032638.5(GATA2):c.414_417del (p.Ser139fs) rs2107672708
NM_032638.5(GATA2):c.416_417del (p.Ser139fs) rs2107672708
NM_032638.5(GATA2):c.417dup (p.Val140fs) rs2107672703
NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter) rs781744898
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)
NM_032638.5(GATA2):c.437del (p.Gly146fs) rs2107672654
NM_032638.5(GATA2):c.437dup (p.Gly147fs) rs2107672654
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs) rs2107672568
NM_032638.5(GATA2):c.522del (p.Thr176fs)
NM_032638.5(GATA2):c.538G>T (p.Glu180Ter) rs2107672419
NM_032638.5(GATA2):c.561dup (p.Thr188fs) rs1576748738
NM_032638.5(GATA2):c.579dup (p.Ala194fs) rs2107672336
NM_032638.5(GATA2):c.586_593dup (p.Gly199fs) rs2107672309
NM_032638.5(GATA2):c.58C>T (p.Gln20Ter) rs2107673689
NM_032638.5(GATA2):c.593del (p.Ala198fs) rs2107672306
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.627_630dup (p.Val211fs) rs2107672252
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) rs1553770949
NM_032638.5(GATA2):c.656_675del (p.Glu219fs)
NM_032638.5(GATA2):c.670G>T (p.Glu224Ter) rs2107672186
NM_032638.5(GATA2):c.685del (p.Leu229fs) rs2107672153
NM_032638.5(GATA2):c.710del (p.Gly237fs) rs2107672102
NM_032638.5(GATA2):c.735dup (p.Ile246fs) rs2107672055
NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs) rs2107672019
NM_032638.5(GATA2):c.769_778dup (p.Tyr260fs) rs2107671965
NM_032638.5(GATA2):c.783_787dup (p.Gly263fs)
NM_032638.5(GATA2):c.793_802del (p.Phe265fs) rs2107671923
NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs)
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter) rs764747992
NM_032638.5(GATA2):c.812dup (p.Pro274fs) rs2107671906
NM_032638.5(GATA2):c.817_818del (p.Gly273fs) rs1559986946
NM_032638.5(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer) rs1576748366
NM_032638.5(GATA2):c.83del (p.Gly28fs) rs2107673633
NM_032638.5(GATA2):c.869C>A (p.Ser290Ter) rs2068685370
NM_032638.5(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_032638.5(GATA2):c.892dup (p.Cys298fs) rs2107670484
NM_032638.5(GATA2):c.915_916del (p.Trp306fs) rs2107670467
NM_032638.5(GATA2):c.917G>A (p.Trp306Ter) rs2107670463
NM_032638.5(GATA2):c.932_937delinsG (p.Thr311fs) rs2107670425
NM_032638.5(GATA2):c.941_951del (p.Tyr314fs) rs2107670410
NM_032638.5(GATA2):c.941_951dup (p.Ala318fs) rs2107670410
NM_032638.5(GATA2):c.952G>A (p.Ala318Thr) rs2107670401
NM_032638.5(GATA2):c.956_962del (p.Cys319fs) rs2107670386
NM_032638.5(GATA2):c.968dup (p.His323fs) rs2107670366
NM_032638.5(GATA2):c.970_994dup (p.Leu332fs) rs2107670328
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862
NM_032638.5(GATA2):c.982C>T (p.Gln328Ter) rs2107670346
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.989_992dup (p.Leu332fs) rs2107670331
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)
Single allele

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