ClinVar Miner

List of variants in gene GATA1 studied for beta-thalassemia-X-linked thrombocytopenia syndrome

Included ClinVar conditions (2):

Complete trisomy 21 syndrome; GATA-1-related thrombocytopenia with dyserythropoiesis; Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; Anemia without thromobocytopenia, X-linked
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln)	rs997764249
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp)	rs387907207
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)	rs104894809
NM_002049.3(GATA1):c.94G>A (p.Val32Ile)	rs782698349

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.