ClinVar Miner

List of variants reported as pathogenic for lysosomal glycogen storage disease by Institute of Human Genetics, University of Leipzig Medical Center

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.-32-13T>G	rs386834236	0.00384
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	rs398123174	0.00003

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