ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type II by Medical Molecular Genetics Department, National Research Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)	rs1598577666
NM_000152.5(GAA):c.1431del (p.Ile477fs)	rs1598580364
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)	rs1433117170

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