ClinVar Miner

List of variants studied for Glycogen storage disease, type II by Lildballe Lab, Aarhus University Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	rs144731405	0.00005
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	rs535644999
NM_000152.5(GAA):c.729C>A (p.Asp243Glu)

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