ClinVar Miner

List of variants reported as pathogenic for Heinz body anemia by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.5(HBB):c.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364

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.