ClinVar Miner

List of variants in gene GATA2 reported as likely pathogenic by PreventionGenetics,PreventionGenetics

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Total variants: 16
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HGVS dbSNP
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.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_032638.5(GATA2):c.1018-2A>C rs1576745322
NM_032638.5(GATA2):c.1021del (p.Ala341fs) rs1576745308
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
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.890del (p.Asn297fs) rs1576746931

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