ClinVar Miner

List of variants reported as likely pathogenic for lysosomal glycogen storage disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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.1309C>T (p.Arg437Cys)	rs770610356	0.00004
NM_000152.5(GAA):c.1194+5G>A	rs2039153749
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)	rs781124934

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