ClinVar Miner

List of variants reported as pathogenic for Glucose 6 phosphate dehydrogenase deficiency by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.486-60C>G rs2515904
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) rs137852328
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693

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.