ClinVar Miner

List of variants reported as pathogenic for lysosomal glycogen storage disease by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	rs121907945	0.00003
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)	rs1556101420
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)	rs104894858

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