List of variants reported as likely benign for Glycogen storage disease, type II by Counsyl

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.668G>A (p.Arg223His)	rs1042395	0.65662
NM_000152.5(GAA):c.1754+21C>T	rs373387713	0.00009
NM_000152.5(GAA):c.2040+16C>T	rs573522544	0.00001
NM_000152.5(GAA):c.1888+49_1888+72del	rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del	rs1555601512
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC	rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC	rs3071247

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.