List of variants reported as pathogenic for Glycogen storage disease, type V by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 5

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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.613G>A (p.Gly205Ser)	rs119103251	0.00027
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)	rs398124209	0.00004
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)	rs768604948	0.00002
NM_005609.4(PYGM):c.373del (p.Glu125fs)	rs2135840482

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