ClinVar Miner

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

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ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
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.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr) rs142008108 0.00034
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile) rs149067043 0.00034
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107 0.00018
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys) rs200481790 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp) rs531748591 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
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.776A>G (p.Asn259Ser) rs115690781 0.00009
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005609.4(PYGM):c.1546C>T (p.Leu516=) rs767703629 0.00005
NM_005609.4(PYGM):c.193G>A (p.Val65Met) rs149658961 0.00005
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_005609.4(PYGM):c.855+4C>T rs199834605 0.00005
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp) rs761807664 0.00004
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln) rs758175735 0.00004
NM_005609.4(PYGM):c.1905G>A (p.Pro635=) rs759582306 0.00004
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296 0.00004
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly) rs775496411 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.64G>A (p.Val22Met) rs140731551 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_005609.4(PYGM):c.833G>A (p.Arg278His) rs775556109 0.00003
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys) rs781394907 0.00002
NM_005609.4(PYGM):c.1239+8C>T rs886048461 0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705 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.2107G>A (p.Glu703Lys) rs984250045 0.00002
NM_005609.4(PYGM):c.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys) rs753533515 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.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.1247C>T (p.Ala416Val) rs767347157 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1403+2dup rs1489442842 0.00001
NM_005609.4(PYGM):c.1598G>A (p.Arg533Gln) rs1194180857 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 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.183C>T (p.Arg61=) rs1182278359 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.2204G>A (p.Arg735His) rs760277933 0.00001
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104 0.00001
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879 0.00001
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro) rs1213033233 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile) rs147571836 0.00001
NM_005609.4(PYGM):c.346-20T>G rs1025560272 0.00001
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286 0.00001
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys) rs749507354 0.00001
NM_005609.4(PYGM):c.704G>A (p.Arg235His) rs371247639 0.00001
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675 0.00001
NM_005609.4(PYGM):c.1000-16_1000-9del
NM_005609.4(PYGM):c.1005del (p.Ile336fs)
NM_005609.4(PYGM):c.100C>A (p.Arg34=) rs531748591
NM_005609.4(PYGM):c.1022C>A (p.Thr341Asn)
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
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.1145C>T (p.Pro382Leu)
NM_005609.4(PYGM):c.1195C>T (p.Arg399Trp)
NM_005609.4(PYGM):c.119_120del (p.Leu40fs)
NM_005609.4(PYGM):c.1220T>G (p.Ile407Ser)
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1265_1275del (p.Asp422fs)
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln) rs368608057
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1283G>A (p.Arg428His)
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
NM_005609.4(PYGM):c.1331A>G (p.His444Arg)
NM_005609.4(PYGM):c.1346G>A (p.Gly449Glu)
NM_005609.4(PYGM):c.1346G>C (p.Gly449Ala)
NM_005609.4(PYGM):c.1404-1G>C
NM_005609.4(PYGM):c.1406T>C (p.Phe469Ser)
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>G (p.Arg490Gly)
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln)
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)
NM_005609.4(PYGM):c.1477C>A (p.Leu493Met)
NM_005609.4(PYGM):c.1495G>A (p.Gly499Arg)
NM_005609.4(PYGM):c.1519-2A>G
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) rs1325298827
NM_005609.4(PYGM):c.1545C>T (p.Asp515=)
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) rs2058363627
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
NM_005609.4(PYGM):c.1614G>A (p.Val538=) rs747854789
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr)
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1620G>T (p.Gln540His)
NM_005609.4(PYGM):c.1621-11T>G
NM_005609.4(PYGM):c.1629G>T (p.Lys543Asn)
NM_005609.4(PYGM):c.1639G>T (p.Ala547Ser)
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1744C>T (p.Leu582Phe)
NM_005609.4(PYGM):c.1810G>C (p.Val604Leu)
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1835C>T (p.Pro612Leu)
NM_005609.4(PYGM):c.1846A>G (p.Met616Val)
NM_005609.4(PYGM):c.1913G>A (p.Gly638Asp)
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
NM_005609.4(PYGM):c.1969+1G>A
NM_005609.4(PYGM):c.1969G>T (p.Val657Leu)
NM_005609.4(PYGM):c.1970-1G>C
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.199C>T (p.Arg67Cys)
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.1_12del (p.Met1_Pro4del)
NM_005609.4(PYGM):c.2009C>A (p.Ala670Glu)
NM_005609.4(PYGM):c.2040_2041insCC (p.Lys681fs)
NM_005609.4(PYGM):c.2042A>T (p.Lys681Met)
NM_005609.4(PYGM):c.2044T>C (p.Phe682Leu)
NM_005609.4(PYGM):c.2049G>C (p.Met683Ile)
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2075_2076delinsAAA (p.Thr692fs)
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu) rs773543072
NM_005609.4(PYGM):c.2086G>A (p.Ala696Thr)
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
NM_005609.4(PYGM):c.212C>T (p.Thr71Met)
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T
NM_005609.4(PYGM):c.2178G>T (p.Gly726=)
NM_005609.4(PYGM):c.2219G>A (p.Arg740Gln)
NM_005609.4(PYGM):c.2255C>T (p.Ser752Phe)
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
NM_005609.4(PYGM):c.2281G>A (p.Asp761Asn)
NM_005609.4(PYGM):c.2284A>G (p.Ile762Val)
NM_005609.4(PYGM):c.2291A>G (p.Asn764Ser)
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2312G>T (p.Arg771Leu)
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
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.2411G>A (p.Arg804Gln)
NM_005609.4(PYGM):c.2422_2423dup (p.Ser809fs)
NM_005609.4(PYGM):c.243+1G>T
NM_005609.4(PYGM):c.243+20G>T
NM_005609.4(PYGM):c.2430C>T (p.Gly810=)
NM_005609.4(PYGM):c.2501G>A (p.Arg834His)
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
NM_005609.4(PYGM):c.285G>T (p.Thr95=)
NM_005609.4(PYGM):c.298A>T (p.Met100Leu)
NM_005609.4(PYGM):c.316G>C (p.Glu106Gln)
NM_005609.4(PYGM):c.346-5T>G
NM_005609.4(PYGM):c.358A>G (p.Met120Val)
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.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+5G>A
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg) rs2135840127
NM_005609.4(PYGM):c.471C>G (p.Gly157=)
NM_005609.4(PYGM):c.484T>C (p.Tyr162His)
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.529-4G>A
NM_005609.4(PYGM):c.548G>A (p.Trp183Ter)
NM_005609.4(PYGM):c.578C>T (p.Ala193Val)
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.660+17G>A
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.664G>C (p.Val222Leu)
NM_005609.4(PYGM):c.679_686dup (p.Pro230fs)
NM_005609.4(PYGM):c.682G>A (p.Asp228Asn)
NM_005609.4(PYGM):c.682G>C (p.Asp228His)
NM_005609.4(PYGM):c.690dup (p.Val231fs)
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
NM_005609.4(PYGM):c.7C>G (p.Arg3Gly)
NM_005609.4(PYGM):c.855+3G>A
NM_005609.4(PYGM):c.858C>A (p.Phe286Leu)
NM_005609.4(PYGM):c.878G>A (p.Arg293Gln)
NM_005609.4(PYGM):c.968T>C (p.Val323Ala)
NM_005609.4(PYGM):c.999+6A>G

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