ClinVar Miner

List of variants reported as likely pathogenic for GATA2 deficiency with susceptibility to MDS/AML by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410
NM_032638.5(GATA2):c.872-1G>C

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.