ClinVar Miner

List of variants in gene GATA2 reported as likely pathogenic

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Total variants: 34
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HGVS dbSNP
NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_001145661.2(GATA2):c.1023_1038dup (p.Thr347fs) rs1576745270
NM_001145661.2(GATA2):c.1054T>C (p.Cys352Arg) rs797045591
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1081C>G (p.Arg361Gly) rs1426175410
NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_001145661.2(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_001145661.2(GATA2):c.1121G>A (p.Gly374Asp) rs1559985057
NM_001145661.2(GATA2):c.1144-1_1146del rs1576744594
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro) rs1553770978
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_001145661.2(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_001145661.2(GATA2):c.953_977dup (p.Gly327fs) rs1576746848
NM_032638.5(GATA2):c.1018-2A>C rs1576745322
NM_032638.5(GATA2):c.1021del (p.Ala341fs) rs1576745308
NM_032638.5(GATA2):c.1024dup (p.Ala342fs)
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) rs1576745256
NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter) rs750890699
NM_032638.5(GATA2):c.1144-1G>C rs1576744604
NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs) rs1576744575
NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly) rs1576744529
NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs) rs1576749014
NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs) rs1576748609
NM_032638.5(GATA2):c.655dup (p.Glu219fs) rs1576748582
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.872-1G>C
NM_032638.5(GATA2):c.890del (p.Asn297fs) rs1576746931

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