ClinVar Miner

List of variants in gene GATA1 studied for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu) rs372131208
NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) rs150572851
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)
NM_002049.3(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.220+1G>C rs1569499366
NM_002049.3(GATA1):c.220+1del rs587776453
NM_002049.3(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.3(GATA1):c.242T>C (p.Leu81Pro) rs1557020166
NM_002049.3(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) rs997764249
NM_002049.3(GATA1):c.479A>G (p.Asn160Ser) rs59609788
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.5_8dup (p.Phe3fs)
NM_002049.3(GATA1):c.613G>A (p.Val205Met) rs104894815
NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.3(GATA1):c.622_623delGGinsTC (p.Gly208Ser) rs137852312
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.64G>A (p.Ala22Thr) rs782188059
NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs)
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) rs587776455

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.