List of variants reported as likely benign for Hemolytic anemia due to glucophosphate isomerase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000175.5(GPI):c.987C>T (p.Asn329=)	rs140676743	0.00125
NM_000175.5(GPI):c.1497C>T (p.Phe499=)	rs138799755	0.00023
NM_000175.5(GPI):c.1063-13G>C	rs202206681	0.00017
NM_000175.5(GPI):c.487-14A>G	rs756884854	0.00002
NM_000175.5(GPI):c.1143G>C (p.Gly381=)	rs1214297048
NM_000175.5(GPI):c.1182C>T (p.Leu394=)
NM_000175.5(GPI):c.1356G>A (p.Ala452=)	rs34604585
NM_000175.5(GPI):c.403-13G>A
NM_000175.5(GPI):c.414C>T (p.Ser138=)
NM_000175.5(GPI):c.603C>G (p.Pro201=)	rs1062480
NM_000175.5(GPI):c.633+11C>G
NM_000175.5(GPI):c.751-5del	rs375313737
NM_000175.5(GPI):c.894G>A (p.Ser298=)

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.