List of variants reported as likely pathogenic for Hemolytic anemia due to glucophosphate isomerase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000175.5(GPI):c.671C>T (p.Thr224Met)	rs61754634	0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)	rs774419705	0.00003
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)	rs1238884216	0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)	rs137853584	0.00001
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu)	rs933668811	0.00001
NM_000175.5(GPI):c.1040G>A (p.Arg347His)	rs137853583
NM_000175.5(GPI):c.1269+1G>A	rs2145429665
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)	rs2513880015
NM_000175.5(GPI):c.48dup (p.Tyr17fs)
NM_000175.5(GPI):c.804+1_804+2del	rs2513825652
NM_000175.5(GPI):c.812del (p.Gly271fs)	rs2145419704
NM_000175.5(GPI):c.937_952dup (p.Val318fs)	rs771983073

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.