ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type II by Centogene AG - the Rare Disease Company

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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.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006

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