ClinVar Miner

List of variants in gene GATA2 reported as pathogenic for GATA2 deficiency with susceptibility to MDS/AML

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
NM_001145661.1(GATA2):c.-200_871+527del2032
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_001145661.2(GATA2):c.1017+513_1017+540del rs1553770655
NM_001145661.2(GATA2):c.1017+572C>T rs1559985787
NM_001145661.2(GATA2):c.1018-1G>T rs869320668
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del) rs869320734
NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs) rs863224874
NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs) rs869320735
NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu) rs387906630
NM_001145661.2(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)
NM_032638.5(GATA2):c.232dup (p.Arg78fs) rs1576749301
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) rs1576749168
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378
NM_032638.5(GATA2):c.839del (p.Pro280fs) rs1576748366
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862

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