ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type II by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	rs121907943	0.00063
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	rs121907940

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