ClinVar Miner

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

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ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
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.1885G>T (p.Asp629Tyr) rs137986928 0.00032
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln) rs368608057 0.00021
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.7C>T (p.Arg3Trp) rs199565370 0.00010
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp) rs531748591 0.00009
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser) rs140016055 0.00009
NM_005609.4(PYGM):c.284C>T (p.Thr95Met) rs375233791 0.00009
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781 0.00009
NM_005609.4(PYGM):c.1919G>A (p.Arg640His) rs141267088 0.00008
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu) rs368385152 0.00007
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln) rs372295369 0.00007
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp) rs200464333 0.00007
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val) rs776881451 0.00006
NM_005609.4(PYGM):c.502A>C (p.Asn168His) rs760531401 0.00006
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg) rs754940511 0.00005
NM_005609.4(PYGM):c.1882G>A (p.Gly628Arg) rs201591132 0.00005
NM_005609.4(PYGM):c.193G>A (p.Val65Met) rs149658961 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.131G>A (p.Arg44His) rs567482511 0.00004
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln) rs758175735 0.00004
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu) rs777736319 0.00004
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296 0.00004
NM_005609.4(PYGM):c.50G>A (p.Arg17His) rs148159796 0.00004
NM_005609.4(PYGM):c.727C>T (p.Arg243Cys) rs141055359 0.00004
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) rs143071876 0.00004
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854 0.00003
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128 0.00003
NM_005609.4(PYGM):c.1492C>T (p.Pro498Ser) rs200101718 0.00003
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly) rs775496411 0.00003
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys) rs915786151 0.00003
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys) rs559363120 0.00003
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr) rs781031847 0.00003
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys) rs200118962 0.00003
NM_005609.4(PYGM):c.359T>C (p.Met120Thr) rs374898083 0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00003
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro) rs747495987 0.00003
NM_005609.4(PYGM):c.593C>T (p.Thr198Met) rs762354482 0.00003
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551 0.00003
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln) rs1030163168 0.00002
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr) rs752045365 0.00002
NM_005609.4(PYGM):c.1315C>T (p.Arg439Cys) rs758774720 0.00002
NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr) rs746021869 0.00002
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354 0.00002
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705 0.00002
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys) rs771016457 0.00002
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser) rs755716626 0.00002
NM_005609.4(PYGM):c.2335G>A (p.Glu779Lys) rs1014177089 0.00002
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599 0.00002
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) rs768576604 0.00002
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys) rs762779955 0.00002
NM_005609.4(PYGM):c.1000G>A (p.Val334Met) rs1233430644 0.00001
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala) rs756085033 0.00001
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser) rs2058379854 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628 0.00001
NM_005609.4(PYGM):c.1205A>C (p.Gln402Pro) rs2135833836 0.00001
NM_005609.4(PYGM):c.121G>A (p.Val41Ile) rs764465584 0.00001
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr) rs761724503 0.00001
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln) rs756303162 0.00001
NM_005609.4(PYGM):c.1283G>A (p.Arg428His) rs767293977 0.00001
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr) rs199728804 0.00001
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys) rs763488434 0.00001
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val) rs922555750 0.00001
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser) rs769985937 0.00001
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr) rs2058371309 0.00001
NM_005609.4(PYGM):c.1404-20C>T rs370135154 0.00001
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys) rs1420860986 0.00001
NM_005609.4(PYGM):c.1520G>A (p.Arg507His) rs575153481 0.00001
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala) rs1287109702 0.00001
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr) rs746031643 0.00001
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln) rs759218298 0.00001
NM_005609.4(PYGM):c.1748A>G (p.His583Arg) rs760543538 0.00001
NM_005609.4(PYGM):c.1769G>A (p.Arg590His) rs115942812 0.00001
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr) rs1254930380 0.00001
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser) rs765656412 0.00001
NM_005609.4(PYGM):c.2204G>A (p.Arg735His) rs760277933 0.00001
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro) rs370144967 0.00001
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys) rs1449944847 0.00001
NM_005609.4(PYGM):c.2306A>C (p.His769Pro) rs771421657 0.00001
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr) rs755923861 0.00001
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met) rs377401213 0.00001
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro) rs1213033233 0.00001
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp) rs747567834 0.00001
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys) rs757670205 0.00001
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile) rs147571836 0.00001
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr) rs753687960 0.00001
NM_005609.4(PYGM):c.46G>A (p.Val16Met) rs555856016 0.00001
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681 0.00001
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys) rs749507354 0.00001
NM_005609.4(PYGM):c.618T>A (p.His206Gln) rs371343340 0.00001
NM_005609.4(PYGM):c.704G>A (p.Arg235His) rs371247639 0.00001
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser) rs771073706 0.00001
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675 0.00001
NM_005609.4(PYGM):c.799G>C (p.Val267Leu) rs756281352 0.00001
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly) rs1305717617 0.00001
NM_005609.4(PYGM):c.828C>G (p.Ile276Met) rs1198004865 0.00001
NM_005609.4(PYGM):c.855+5G>A rs748486465 0.00001
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974 0.00001
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys) rs778061067 0.00001
NM_005609.4(PYGM):c.932G>A (p.Arg311His) rs147851780 0.00001
NM_005609.4(PYGM):c.967G>T (p.Val323Leu) rs770104418 0.00001
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) rs886048463 0.00001
NC_000011.9:g.(?_64520525)_(64523631_?)dup
NM_005609.4(PYGM):c.1015A>T (p.Asn339Tyr)
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys) rs759846298
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala) rs1592411804
NM_005609.4(PYGM):c.1134C>A (p.His378Gln) rs2135834122
NM_005609.4(PYGM):c.1142T>C (p.Leu381Pro) rs1156945983
NM_005609.4(PYGM):c.1166C>A (p.Pro389Gln) rs149649134
NM_005609.4(PYGM):c.1173C>A (p.His391Gln) rs765402043
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr) rs2058375583
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys) rs764712114
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp) rs11231866
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn) rs562393971
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp) rs577821154
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del) rs2496657306
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile) rs2496656917
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe) rs151213354
NM_005609.4(PYGM):c.1373G>A (p.Arg458His)
NM_005609.4(PYGM):c.1379A>G (p.His460Arg) rs2135832903
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val) rs757470750
NM_005609.4(PYGM):c.1443G>C (p.Gln481His) rs767125939
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser) rs2496655040
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met) rs540436223
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu) rs766794236
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro) rs2496653538
NM_005609.4(PYGM):c.1620+5G>T rs2135831177
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys) rs1311913891
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu) rs1182548085
NM_005609.4(PYGM):c.1721A>G (p.Tyr574Cys)
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys) rs1413461008
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val) rs769869077
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.193G>C (p.Val65Leu) rs149658961
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr) rs2496648766
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg) rs755716626
NM_005609.4(PYGM):c.208_210del (p.Arg70del) rs2496674944
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile) rs2496648065
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg) rs377713922
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys) rs1232022501
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile) rs2496639048
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg) rs750356895
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe) rs2058315104
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln) rs2496636587
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln) rs1476157353
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr) rs373305106
NM_005609.4(PYGM):c.241A>G (p.Lys81Glu)
NM_005609.4(PYGM):c.2428G>A (p.Gly810Ser)
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly) rs200118962
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala) rs775376390
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn) rs2058309986
NM_005609.4(PYGM):c.299T>G (p.Met100Arg)
NM_005609.4(PYGM):c.345+17_345+18delinsAA rs2496671320
NM_005609.4(PYGM):c.345G>C (p.Gln115His) rs2135840732
NM_005609.4(PYGM):c.358A>C (p.Met120Leu) rs886943655
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg) rs2058409644
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser) rs1246112610
NM_005609.4(PYGM):c.407G>T (p.Gly136Val)
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg) rs2135840127
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp) rs2058407754
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser) rs2496668403
NM_005609.4(PYGM):c.691G>A (p.Val231Met) rs763524554
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala) rs2496664048
NM_005609.4(PYGM):c.728G>A (p.Arg243His) rs1312195500
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr) rs778261564
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser) rs2058386942
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro) rs775556109
NM_005609.4(PYGM):c.855+3G>T rs1460614971
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys) rs776369912
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln) rs1358384674
NM_005609.4(PYGM):c.898G>A (p.Val300Met) rs757387408
NM_005609.4(PYGM):c.898G>C (p.Val300Leu) rs757387408
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly) rs141889634
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile) rs2135835320
NM_005609.4(PYGM):c.982G>C (p.Asp328His) rs758682386
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu) rs2135835281

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