ClinVar Miner

List of variants reported as uncertain significance for lysosomal glycogen storage disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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.862G>A (p.Gly288Ser)	rs200125735	0.00006
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)	rs778577575	0.00002
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)	rs143324027

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