ClinVar Miner

List of variants reported 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 0.00384
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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