ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type V by Labcorp Genetics (formerly Invitae), Labcorp

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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.613G>A (p.Gly205Ser) rs119103251 0.00027
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.1768+1G>A rs771427957 0.00007
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
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.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.1948C>T (p.Arg650Ter) rs114073621 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.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1159del (p.Arg387fs) rs2058376454 0.00001
NM_005609.4(PYGM):c.1239+1G>A rs759657964 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1353dup (p.Ala452fs) rs779562449 0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 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.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.2024C>T (p.Ser675Leu) rs794727189 0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) rs1483102315 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.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter) rs1223885403 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.(?_64750356)_(64750603_?)del
NC_000011.10:g.(?_64750366)_(64750593_?)del
NC_000011.10:g.(?_64758226)_(64758724_?)del
NC_000011.9:g.(?_64514121)_(64518065_?)del
NC_000011.9:g.(?_64517838)_(64522318_?)del
NC_000011.9:g.(?_64518135)_(64519387_?)del
NC_000011.9:g.(?_64520971)_(64526196_?)del
NC_000011.9:g.(?_64522725)_(64527370_?)del
NC_000011.9:g.(?_64522783)_(66283694_?)del
NC_000011.9:g.(?_64525241)_(64527380_?)del
NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter) rs2135834746
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
NM_005609.4(PYGM):c.1072del (p.Glu358fs)
NM_005609.4(PYGM):c.108del (p.His37fs)
NM_005609.4(PYGM):c.1114del (p.Thr372fs)
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.112_122del (p.Phe38fs) rs2058422018
NM_005609.4(PYGM):c.1138_1144del (p.Val380fs) rs2135834073
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs) rs2058376262
NM_005609.4(PYGM):c.122_126del (p.Val41fs)
NM_005609.4(PYGM):c.1239_1239+1delinsAT rs2135833743
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs) rs2058372554
NM_005609.4(PYGM):c.129_150del (p.Asp43fs) rs2058421657
NM_005609.4(PYGM):c.1338_1341dup (p.Ala448fs)
NM_005609.4(PYGM):c.1352_1372del (p.His451_Ala457del)
NM_005609.4(PYGM):c.1358_1364del (p.Val453fs) rs2135833005
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378
NM_005609.4(PYGM):c.1403+1G>A rs1191939323
NM_005609.4(PYGM):c.141del (p.Thr48fs)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
NM_005609.4(PYGM):c.1477del (p.Leu493fs) rs2058367842
NM_005609.4(PYGM):c.1507del (p.Val503fs) rs1272600960
NM_005609.4(PYGM):c.1523del (p.Ile508fs) rs2135831473
NM_005609.4(PYGM):c.1531del (p.Asp511fs) rs2058363821
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) rs2058363627
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) rs1592410003
NM_005609.4(PYGM):c.157del (p.Tyr53fs) rs2135842587
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter) rs1311913891
NM_005609.4(PYGM):c.1673dup (p.Asn559fs)
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1761_1765del (p.Tyr588fs)
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1853dup (p.Met619fs) rs2135829844
NM_005609.4(PYGM):c.1948del (p.Arg650fs) rs2058354383
NM_005609.4(PYGM):c.1956_1962del (p.Leu653fs)
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.1A>T (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2086dup (p.Ala696fs)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2146dup (p.Val716fs)
NM_005609.4(PYGM):c.2154del (p.Asp718fs) rs2135828360
NM_005609.4(PYGM):c.2181dup (p.Asn728fs) rs2058321851
NM_005609.4(PYGM):c.2188_2189del (p.Gln730fs)
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.2255_2264dup (p.Gln755fs) rs2058320138
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter) rs773361937
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter)
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2370del (p.Leu791fs)
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
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.2394del (p.Glu797_Trp798insTer)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
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.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.393del (p.Leu132fs)
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.398del (p.Gly133fs)
NM_005609.4(PYGM):c.3G>A (p.Met1Ile)
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.45_67del (p.Ser15fs)
NM_005609.4(PYGM):c.462dup (p.Ala155fs)
NM_005609.4(PYGM):c.485_486del (p.Arg161_Tyr162insTer)
NM_005609.4(PYGM):c.493_514del (p.Gly165fs) rs2135839973
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.521del (p.Gly174fs) rs2058407169
NM_005609.4(PYGM):c.521dup (p.Trp175fs) rs2058407169
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter)
NM_005609.4(PYGM):c.558del (p.Arg185_Tyr186insTer)
NM_005609.4(PYGM):c.55dup (p.Leu19fs)
NM_005609.4(PYGM):c.569G>A (p.Trp190Ter) rs2135839308
NM_005609.4(PYGM):c.632del (p.Ser211fs) rs759015176
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter)
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.658del (p.Gln220fs)
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter) rs377503100
NM_005609.4(PYGM):c.682del (p.Asp228fs) rs2058388882
NM_005609.4(PYGM):c.699del (p.Tyr234fs)
NM_005609.4(PYGM):c.730del (p.Leu244fs) rs2135836491
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter) rs2135836483
NM_005609.4(PYGM):c.772+1G>T
NM_005609.4(PYGM):c.773-2A>T
NM_005609.4(PYGM):c.776dup (p.Asn259fs)
NM_005609.4(PYGM):c.803del (p.Leu268fs)
NM_005609.4(PYGM):c.917dup (p.Asp307fs)
NM_005609.4(PYGM):c.922del (p.Ile308fs)

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