ClinVar Miner

List of variants studied 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 0.00384
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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