ClinVar Miner

List of variants reported as pathogenic for lysosomal glycogen storage disease by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (6):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000152.5(GAA):c.546G>A (p.Thr182=)	rs143523371	0.00003

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