ClinVar Miner

List of variants reported as uncertain significance for lysosomal glycogen storage disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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_002294.3(LAMP2):c.640C>A (p.Pro214Thr)	rs776101722	0.00003
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)	rs1555598609

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