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
Download table as spreadsheet
HGVS dbSNP
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.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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.