List of variants reported as pathogenic for disorder of glycogen metabolism by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000152.5(GAA):c.525del (p.Glu176fs)	rs386834235	0.00019
NM_000152.5(GAA):c.546G>A (p.Thr182=)	rs143523371	0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127

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.