List of variants reported as benign for Glycogen storage disease, type II by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.2040+20A>G	rs2304836	0.72004
NM_000152.5(GAA):c.1754+12G>A	rs2304840	0.06396
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04051
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	rs1800299	0.02215
NM_000152.5(GAA):c.1075+13C>T	rs41292402	0.01065
NM_000152.5(GAA):c.2400C>T (p.Ser800=)	rs115705591	0.00724
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)	rs1800307	0.00653
NM_000152.5(GAA):c.852G>A (p.Ala284=)	rs142626724	0.00638
NM_000152.5(GAA):c.546+18G>A	rs190153982	0.00474
NM_000152.5(GAA):c.2580C>T (p.Asp860=)	rs61736894	0.00459
NM_000152.5(GAA):c.447G>A (p.Thr149=)	rs2289536	0.00362
NM_000152.5(GAA):c.2571G>T (p.Leu857=)	rs17853996	0.00319
NM_000152.5(GAA):c.2481+16G>A	rs41292408	0.00252
NM_000152.5(GAA):c.258C>A (p.Pro86=)	rs146615896	0.00170
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)	rs145712232	0.00057
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)	rs377286472	0.00002
NM_000152.5(GAA):c.858+17_858+23del	rs1555599723

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.