ClinVar Miner

List of variants studied for Glycogen storage disease, type V by Department of Human Genetics, Hannover Medical School

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) rs768576604 0.00002

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