ClinVar Miner

List of variants in gene PYGM reported as likely pathogenic for Glycogen storage disease, type V

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Total variants: 158
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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.660G>A (p.Gln220=) rs142234258 0.00161
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
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.2178-1G>A rs143670942 0.00005
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) rs1005687078 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro) rs761438921 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 0.00002
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948 0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145 0.00002
NM_005609.4(PYGM):c.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1092+1G>A rs749560316 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln) rs143550601 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 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.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) rs1483102315 0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter) rs1223885403 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005609.4(PYGM):c.661-601G>A rs1474863903 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000011.9:g.(?_64513860)_(64514831_64517847)del
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1092+1G>C rs749560316
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1093-2A>T
NM_005609.4(PYGM):c.110A>G (p.His37Arg) rs1170598133
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.120_121insA (p.Val41fs)
NM_005609.4(PYGM):c.1239+1G>T rs759657964
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs) rs2058372554
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
NM_005609.4(PYGM):c.1403+1dup
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
NM_005609.4(PYGM):c.1507del (p.Val503fs) rs1272600960
NM_005609.4(PYGM):c.1519-1G>A rs2135831491
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1620+1G>T
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_005609.4(PYGM):c.1769-1G>A rs2058357329
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1828-1G>A
NM_005609.4(PYGM):c.1828-1G>T
NM_005609.4(PYGM):c.1828-2A>G rs2135829883
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
NM_005609.4(PYGM):c.1969+1G>A
NM_005609.4(PYGM):c.1969+1G>C
NM_005609.4(PYGM):c.1969+1G>T rs753181427
NM_005609.4(PYGM):c.1970-1G>A rs1057516598
NM_005609.4(PYGM):c.1970-2A>C
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
NM_005609.4(PYGM):c.198del (p.Arg67fs) rs750857876
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu) rs773543072
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) rs1057517067
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.219_220del (p.His74fs) rs1555136752
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) rs1057517058
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2274del (p.Phe759fs)
NM_005609.4(PYGM):c.2313-1G>A
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2379+1G>A
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2380-2A>G
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.244-1G>A rs2135840980
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu) rs1057516529
NM_005609.4(PYGM):c.253del (p.Tyr85fs) rs1057516629
NM_005609.4(PYGM):c.254_257del (p.Tyr85fs) rs2135840945
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.262_263del (p.Leu88fs) rs1555136540
NM_005609.4(PYGM):c.2T>C (p.Met1Thr) rs2058423391
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+1G>A
NM_005609.4(PYGM):c.424+1G>T
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) rs1057517400
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.528+1G>A rs1262967083
NM_005609.4(PYGM):c.528+1G>T
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.580del (p.Arg194fs)
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
NM_005609.4(PYGM):c.682del (p.Asp228fs) rs2058388882
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
NM_005609.4(PYGM):c.772+2T>A
NM_005609.4(PYGM):c.773-1G>C rs2135836264
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
NM_005609.4(PYGM):c.855+1G>A rs2135836123
NM_005609.4(PYGM):c.856-2A>C rs1565536363
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
NM_005609.4(PYGM):c.999+1G>A

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