ClinVar Miner

List of variants in gene GATA2 reported as likely 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: 9
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HGVS dbSNP
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
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.526A>C (p.Thr176Pro) rs1553770978
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.872-1G>C

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