List of variants reported as pathogenic for carbohydrate metabolism disease by Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000147.5(FUCA1):c.170del (p.Lys57fs)	rs1639663980
NM_000147.5(FUCA1):c.237del (p.Trp79fs)	rs1639662557
NM_000147.5(FUCA1):c.662+5G>C	rs941666554
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)	rs1177361428
NM_000202.8(IDS):c.1350del (p.Pro451fs)	rs2089306467
NM_000202.8(IDS):c.610C>T (p.Gln204Ter)	rs1557339532

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.