List of variants reported as likely benign for Glycogen storage disease, type V by Natera, Inc.

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.330C>T (p.Asp110=)	rs114742918	0.00189
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)	rs115347245	0.00160
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)	rs75685607	0.00126
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	rs114468011	0.00081
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)	rs141959242	0.00062
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)	rs143217651	0.00026
NM_005609.4(PYGM):c.2177+7G>A	rs201366697	0.00022
NM_005609.4(PYGM):c.72C>T (p.Asn24=)	rs757114579	0.00018
NM_005609.4(PYGM):c.558C>T (p.Tyr186=)	rs144298015	0.00015
NM_005609.4(PYGM):c.606C>T (p.His202=)	rs79860859	0.00010
NM_005609.4(PYGM):c.1926T>C (p.Arg642=)	rs779048512	0.00004
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)	rs199927544	0.00003
NM_005609.4(PYGM):c.681C>T (p.Tyr227=)	rs377503100	0.00003
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)	rs371264447	0.00001
NM_005609.4(PYGM):c.1395G>A (p.Lys465=)	rs555057489	0.00001
NM_005609.4(PYGM):c.723C>T (p.Thr241=)	rs772848708	0.00001

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.