ClinVar Miner

List of variants in gene GATA1 reported as uncertain significance for anemia (disease)

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) rs997764249
NM_002049.3(GATA1):c.480T>G (p.Asn160Lys) rs143332634
NM_002049.3(GATA1):c.529G>A (p.Gly177Arg) rs1482381233
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs) rs1602220695
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser)
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn)
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu)
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys)
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln)

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.