List of variants reported as likely pathogenic for Glycogen storage disease, type VI by Invitae

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)	rs760187622	0.00004
NM_002863.5(PYGL):c.772+1G>A	rs776545903	0.00003
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)	rs749922511	0.00001
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)	rs2050437440
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)	rs767847163

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.