ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type II by Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	rs28937909	0.00002
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)	rs767409395	0.00001

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