ClinVar Miner

List of variants studied for GATA2 deficiency with susceptibility to MDS/AML by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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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.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.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.761C>T (p.Pro254Leu) rs387906630
NM_032638.5(GATA2):c.232dup (p.Arg78fs)
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)

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