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

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Total variants: 38

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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.613G>A (p.Gly205Ser)	rs119103251	0.00027
NM_005609.4(PYGM):c.1768+1G>A	rs771427957	0.00007
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	rs144081869	0.00006
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	rs767739769	0.00004
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	rs780656375	0.00003
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	rs398124208	0.00002
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)	rs114073621	0.00002
NM_005609.4(PYGM):c.345+2T>A	rs1219299972	0.00002
NM_005609.4(PYGM):c.1239+1G>A	rs759657964	0.00001
NM_005609.4(PYGM):c.1353dup (p.Ala452fs)	rs779562449	0.00001
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.2385_2386del (p.Glu797fs)	rs750080547	0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)	rs370247862	0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	rs776680924	0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	rs755117847	0.00001
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)	rs1223701129
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)	rs2496659888
NM_005609.4(PYGM):c.1098G>A (p.Trp366Ter)	rs1477931501
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)	rs2058376262
NM_005609.4(PYGM):c.1403+1G>A	rs1191939323
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)	rs2496655165
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)	rs780193588
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)	rs140102591
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)	rs770037766
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2380-1G>A	rs1555133248
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	rs527236146
NM_005609.4(PYGM):c.260_261del (p.Ser87fs)	rs757762109
NM_005609.4(PYGM):c.425-2A>G	rs752851284
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)	rs1278522566
NM_005609.4(PYGM):c.632del (p.Ser211fs)	rs759015176
NM_005609.4(PYGM):c.772+2_772+3del	rs2496663744

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