ClinVar Miner

List of variants studied for lysosomal glycogen storage disease by Breda Genetics srl

Included ClinVar conditions (6):

Danon disease
Danon disease; Cardiomyopathy
Danon disease; Hypertrophic cardiomyopathy
Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease, type II
Primary dilated cardiomyopathy; Danon disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000152.5(GAA):c.2189+1G>T	rs1209887739	0.00001
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)

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