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

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Total variants: 16

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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.425-26A>G	rs764313717	0.00009
NM_005609.4(PYGM):c.1768+1G>A	rs771427957	0.00007
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)	rs114073621	0.00002
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)	rs768604948	0.00002
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)	rs370247862	0.00001
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)	rs780193588
NM_005609.4(PYGM):c.1A>G (p.Met1Val)	rs267606993
NM_005609.4(PYGM):c.2075_2076delinsAAA (p.Thr692fs)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	rs367990192

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