ClinVar Miner

List of variants studied for Glycogen storage disease, type V by Baylor Genetics

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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
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.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005609.4(PYGM):c.-20C>T rs71581796 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 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.808C>T (p.Arg270Ter) rs767739769 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.2312G>A (p.Arg771Gln) rs150911354 0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 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.1948C>T (p.Arg650Ter) rs114073621 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.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.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.1468C>T (p.Arg490Trp) rs765612286 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.1768+2T>G rs747513238 0.00001
NM_005609.4(PYGM):c.1769G>A (p.Arg590His) rs115942812 0.00001
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 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.2385_2386del (p.Glu797fs) rs750080547 0.00001
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe) rs761616685 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.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
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.1093-1G>C rs1163710370
NM_005609.4(PYGM):c.1093-2A>T rs2496659071
NM_005609.4(PYGM):c.1098G>A (p.Trp366Ter) rs1477931501
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala) rs1371878710
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs) rs2058376262
NM_005609.4(PYGM):c.120_121insA (p.Val41fs) rs2496675487
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.125del (p.Lys42fs) rs2496675458
NM_005609.4(PYGM):c.1275dup (p.Leu426fs) rs2135833290
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs) rs2058372554
NM_005609.4(PYGM):c.134del (p.Asn45fs) rs2496675394
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del) rs2496656680
NM_005609.4(PYGM):c.1379_1383dup (p.Glu462fs) rs2496656745
NM_005609.4(PYGM):c.1403+1G>A rs1191939323
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs) rs2496655318
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter) rs2496655165
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) rs2058363627
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs) rs2496652676
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1828-1G>A rs1394587447
NM_005609.4(PYGM):c.1828-1G>T rs1394587447
NM_005609.4(PYGM):c.194dup (p.Arg67fs) rs2496675044
NM_005609.4(PYGM):c.1969+1G>A rs753181427
NM_005609.4(PYGM):c.1969+1G>C rs753181427
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp) rs2496648756
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2125_2143del (p.Phe709fs) rs2496647995
NM_005609.4(PYGM):c.2146dup (p.Val716fs) rs2496647974
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T rs751875471
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.2181C>G (p.Tyr727Ter) rs751710019
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.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2274del (p.Phe759fs) rs2496639301
NM_005609.4(PYGM):c.2313-1G>A rs2496637644
NM_005609.4(PYGM):c.2356G>T (p.Glu786Ter) rs2496637381
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2379+1G>A rs1295688123
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
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.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.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+1G>T rs2496670715
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.472dup (p.Tyr158fs) rs2496670236
NM_005609.4(PYGM):c.47_57del (p.Val16fs) rs2496675835
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter) rs1278522566
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.580del (p.Arg194fs) rs2496668596
NM_005609.4(PYGM):c.632del (p.Ser211fs) rs759015176
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter) rs753533515
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs) rs2496664131
NM_005609.4(PYGM):c.67del (p.Glu23fs) rs2496675771
NM_005609.4(PYGM):c.682del (p.Asp228fs) rs2058388882
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter) rs779706675
NM_005609.4(PYGM):c.772+2T>A rs2496663754
NM_005609.4(PYGM):c.772+2_772+3del rs2496663744
NM_005609.4(PYGM):c.839_843del (p.Leu280fs) rs2496663079
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter) rs1358384674
NM_005609.4(PYGM):c.999+1G>A rs778749893

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