List of variants reported as pathogenic for carbohydrate metabolism disease by Undiagnosed Diseases Network, NIH

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004130.4(GYG1):c.143+3G>C	rs370652040	0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	rs138504221	0.00015
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)	rs148881970	0.00013
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	rs104894637	0.00011
NM_000308.4(CTSA):c.497del (p.Glu166fs)	rs1159382283	0.00003
NM_152419.3(HGSNAT):c.493+809T>C	rs1042066401	0.00001
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT	rs869320698
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	rs80338671
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	rs555145190
NM_004130.4(GYG1):c.487del (p.Asp163fs)	rs727502871
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	rs763301637

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.