ClinVar Miner

List of variants studied for Glycogen storage disease, type V by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00004

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