List of variants in gene combination GYS1, LOC130064896 reported as uncertain significance for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002103.4(GYS1):c.-199T>C	rs770497351	0.00006
NM_002103.5(GYS1):c.-171A>T	rs766268073	0.00003
NM_002103.5(GYS1):c.-157C>T	rs748554746
NM_002103.5(GYS1):c.-172T>C	rs886054574
NM_002103.5(GYS1):c.-195T>A	rs2038974225

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.