List of variants reported as pathogenic for Glycogen storage disease, type V by Counsyl

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)	rs119103251	0.00027
NM_005609.4(PYGM):c.13_14del (p.Leu5fs)	rs772194378
NM_005609.4(PYGM):c.1A>T (p.Met1Leu)	rs267606993
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2380-1G>A	rs1555133248
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258

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