ClinVar Miner

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

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032638.5(GATA2):c.1160C>A (p.Thr387Asn) rs1060500092 0.00001
NM_032638.5(GATA2):c.937C>T (p.His313Tyr) rs2068661887 0.00001
NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del
NM_032638.5(GATA2):c.1017+513_1017+540del rs1553770655
NM_032638.5(GATA2):c.1018-1G>A rs869320668
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_032638.5(GATA2):c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla) rs2107668794
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1045T>G (p.Cys349Gly) rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) rs1576745256
NM_032638.5(GATA2):c.1046G>T (p.Cys349Phe) rs1576745256
NM_032638.5(GATA2):c.1052A>G (p.Asn351Ser) rs1576745252
NM_032638.5(GATA2):c.1054T>C (p.Cys352Arg) rs797045591
NM_032638.5(GATA2):c.1054T>G (p.Cys352Gly) rs797045591
NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe) rs2107668733
NM_032638.5(GATA2):c.1061C>G (p.Thr354Arg) rs387906631
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1066_1095del (p.Thr356_Asn365del) rs2107668655
NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala) rs2107668704
NM_032638.5(GATA2):c.1070C>T (p.Thr357Ile) rs2107668699
NM_032638.5(GATA2):c.1076T>C (p.Leu359Ser) rs2107668687
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg) rs2107668680
NM_032638.5(GATA2):c.1079G>T (p.Trp360Leu) rs2107668679
NM_032638.5(GATA2):c.1080G>A (p.Trp360Ter)
NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly) rs1426175410
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1084_1095del (p.Arg362_Asn365del) rs869320734
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1085G>C (p.Arg362Pro) rs867160952
NM_032638.5(GATA2):c.1110C>G (p.Cys370Trp) rs2107668638
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.1114G>A (p.Ala372Thr) rs936826425
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1117_1131del (p.Cys373_Tyr377del) rs2107668588
NM_032638.5(GATA2):c.1118G>A (p.Cys373Tyr) rs2107668617
NM_032638.5(GATA2):c.1123C>G (p.Leu375Val) rs2107668602
NM_032638.5(GATA2):c.1123C>T (p.Leu375Phe) rs2107668602
NM_032638.5(GATA2):c.1129T>G (p.Tyr377Asp) rs2107668593
NM_032638.5(GATA2):c.1143+5G>A rs2107668551
NM_032638.5(GATA2):c.1143+5G>C rs2107668551
NM_032638.5(GATA2):c.1154C>A (p.Pro385Gln) rs2107668121
NM_032638.5(GATA2):c.1162A>G (p.Met388Val) rs2107668104
NM_032638.5(GATA2):c.1163T>C (p.Met388Thr) rs2107668103
NM_032638.5(GATA2):c.1168A>G (p.Lys390Glu) rs2107668094
NM_032638.5(GATA2):c.1187G>T (p.Arg396Leu) rs1553770434
NM_032638.5(GATA2):c.1192C>G (p.Arg398Gly)
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.1322_1325dup (p.His442fs) rs2107667819
NM_032638.5(GATA2):c.1341C>A (p.Ser447Arg) rs1338194519
NM_032638.5(GATA2):c.1341C>G (p.Ser447Arg)
NM_032638.5(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_032638.5(GATA2):c.871+1G>A
NM_032638.5(GATA2):c.872-1G>C rs2068663163
NM_032638.5(GATA2):c.944T>C (p.Leu315Pro) rs2107670416

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