ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease, type V

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 413
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
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.1083C>T (p.Asp361=) rs141959242 0.00062
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00042
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_005609.2(PYGM):c.-789T>C rs143460923 0.00038
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590 0.00034
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.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867 0.00026
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107 0.00018
NM_005609.3(PYGM):c.-146C>A rs764403406 0.00016
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789 0.00016
NM_005609.2(PYGM):c.-724C>G rs754685048 0.00013
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys) rs559363120 0.00013
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.284C>T (p.Thr95Met) rs375233791 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp) rs199565370 0.00010
NM_005609.4(PYGM):c.-20C>T rs71581796 0.00009
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.1766A>G (p.Asn589Ser) rs140016055 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.540C>T (p.Ala180=) rs148731983 0.00009
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628 0.00009
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 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.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_005609.4(PYGM):c.1239+12G>A rs760471706 0.00006
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.2199C>T (p.Tyr733=) rs140102591 0.00006
NM_005609.4(PYGM):c.502A>C (p.Asn168His) rs760531401 0.00006
NM_005609.4(PYGM):c.661-599G>T rs963364351 0.00006
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys) rs762779955 0.00006
NM_005609.4(PYGM):c.1239+9G>A rs374937711 0.00005
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg) rs754940511 0.00005
NM_005609.4(PYGM):c.1546C>T (p.Leu516=) rs767703629 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.1218G>T (p.Glu406Asp) rs757762621 0.00004
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726 0.00004
NM_005609.4(PYGM):c.131G>A (p.Arg44His) rs567482511 0.00004
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val) rs377371768 0.00004
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 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.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296 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.1492C>T (p.Pro498Ser) rs200101718 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.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro) rs747495987 0.00003
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551 0.00003
NM_005609.4(PYGM):c.780C>T (p.Val260=) rs754415422 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.1315C>T (p.Arg439Cys) rs758774720 0.00002
NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr) rs746021869 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705 0.00002
NM_005609.4(PYGM):c.1881C>T (p.Ile627=) rs369361532 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.2054A>G (p.Asn685Ser) rs765656412 0.00002
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys) rs984250045 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.346-9C>T rs368998655 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.818C>T (p.Ala273Val) rs768576604 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005609.3(PYGM):c.-234C>T rs886048466 0.00001
NM_005609.4(PYGM):c.*80G>A rs1245399507 0.00001
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1092+15C>T rs1319046232 0.00001
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628 0.00001
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val) rs767347157 0.00001
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln) rs756303162 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354 0.00001
NM_005609.4(PYGM):c.1403+2dup rs1489442842 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.1598G>A (p.Arg533Gln) rs1194180857 0.00001
NM_005609.4(PYGM):c.1620+3G>T rs548943016 0.00001
NM_005609.4(PYGM):c.1702G>A (p.Val568Met) rs757791045 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1748A>G (p.His583Arg) rs760543538 0.00001
NM_005609.4(PYGM):c.183C>T (p.Arg61=) rs1182278359 0.00001
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189 0.00001
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072 0.00001
NM_005609.4(PYGM):c.2204G>A (p.Arg735His) rs760277933 0.00001
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys) rs1449944847 0.00001
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104 0.00001
NM_005609.4(PYGM):c.2322C>T (p.Val774=) rs1045215677 0.00001
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879 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.256C>T (p.Leu86=) rs541817643 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.346C>G (p.Leu116Val) rs759361512 0.00001
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286 0.00001
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr) rs753687960 0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579 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.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu) rs773595572 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.735G>T (p.Trp245Cys) rs779706675 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.98A>G (p.Asn33Ser) rs886048463 0.00001
NC_000011.9:g.(?_64520525)_(64523631_?)dup
NM_005609.2(PYGM):c.-556C>G rs886048467
NM_005609.2(PYGM):c.-668C>T rs886048468
NM_005609.4(PYGM):c.-23G>A rs886048465
NM_005609.4(PYGM):c.1000-16_1000-9del
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
NM_005609.4(PYGM):c.100C>A (p.Arg34=) rs531748591
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln)
NM_005609.4(PYGM):c.1022C>A (p.Thr341Asn)
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser)
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys)
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
NM_005609.4(PYGM):c.1093-3C>T
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala) rs1592411804
NM_005609.4(PYGM):c.1127C>T (p.Thr376Ile)
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
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.1144C>G (p.Pro382Ala)
NM_005609.4(PYGM):c.1145C>T (p.Pro382Leu)
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys) rs2058376345
NM_005609.4(PYGM):c.1166C>A (p.Pro389Gln) rs149649134
NM_005609.4(PYGM):c.1173C>A (p.His391Gln)
NM_005609.4(PYGM):c.1195C>T (p.Arg399Trp)
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr) rs2058375583
NM_005609.4(PYGM):c.1205A>C (p.Gln402Pro) rs2135833836
NM_005609.4(PYGM):c.1219A>G (p.Ile407Val)
NM_005609.4(PYGM):c.121G>A (p.Val41Ile)
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr)
NM_005609.4(PYGM):c.1220T>G (p.Ile407Ser)
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser)
NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys)
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr)
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu)
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp) rs577821154
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.1298AGG[1] (p.Glu434del)
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
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.134A>G (p.Asn45Ser)
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile)
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe)
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr)
NM_005609.4(PYGM):c.1379A>G (p.His460Arg) rs2135832903
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)
NM_005609.4(PYGM):c.1404-20C>T
NM_005609.4(PYGM):c.1406T>C (p.Phe469Ser)
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1443G>C (p.Gln481His) rs767125939
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr) rs2135832293
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile) rs1555134900
NM_005609.4(PYGM):c.1468C>G (p.Arg490Gly)
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln)
NM_005609.4(PYGM):c.1477C>A (p.Leu493Met)
NM_005609.4(PYGM):c.1495G>A (p.Gly499Arg)
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser)
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys)
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met)
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu)
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu)
NM_005609.4(PYGM):c.1545C>T (p.Asp515=)
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro)
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+5G>T rs2135831177
NM_005609.4(PYGM):c.1620+6G>A rs2058362817
NM_005609.4(PYGM):c.1620G>T (p.Gln540His)
NM_005609.4(PYGM):c.1621-11T>G
NM_005609.4(PYGM):c.1629G>A (p.Lys543=) rs2058360665
NM_005609.4(PYGM):c.1639G>T (p.Ala547Ser)
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys)
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val)
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu)
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln) rs759218298
NM_005609.4(PYGM):c.1744C>T (p.Leu582Phe)
NM_005609.4(PYGM):c.1769-7T>C rs2058357396
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.177C>T (p.Thr59=) rs753355735
NM_005609.4(PYGM):c.1810G>C (p.Val604Leu)
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr)
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys) rs1413461008
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val)
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.4(PYGM):c.1835C>T (p.Pro612Leu)
NM_005609.4(PYGM):c.1846A>G (p.Met616Val)
NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile)
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
NM_005609.4(PYGM):c.1913G>A (p.Gly638Asp)
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
NM_005609.4(PYGM):c.193G>C (p.Val65Leu)
NM_005609.4(PYGM):c.1969G>T (p.Val657Leu)
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr)
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.199C>T (p.Arg67Cys)
NM_005609.4(PYGM):c.2009C>A (p.Ala670Glu)
NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys)
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg) rs755716626
NM_005609.4(PYGM):c.2042A>T (p.Lys681Met)
NM_005609.4(PYGM):c.2044T>C (p.Phe682Leu)
NM_005609.4(PYGM):c.2047A>G (p.Met683Val) rs1309230359
NM_005609.4(PYGM):c.2049G>C (p.Met683Ile)
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348
NM_005609.4(PYGM):c.2086G>A (p.Ala696Thr)
NM_005609.4(PYGM):c.208_210del (p.Arg70del)
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile)
NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu)
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
NM_005609.4(PYGM):c.212C>T (p.Thr71Met)
NM_005609.4(PYGM):c.2143C>A (p.Arg715=) rs780656375
NM_005609.4(PYGM):c.2178G>T (p.Gly726=)
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro) rs370144967
NM_005609.4(PYGM):c.2219G>A (p.Arg740Gln)
NM_005609.4(PYGM):c.222C>G (p.His74Gln)
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys)
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe)
NM_005609.4(PYGM):c.2255C>T (p.Ser752Phe)
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
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.22C>A (p.Gln8Lys) rs886048464
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile)
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly) rs369382075
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312G>T (p.Arg771Leu)
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn) rs2058315823
NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr)
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys) rs2135823341
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg) rs750356895
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr)
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe) rs2058315104
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)
NM_005609.4(PYGM):c.242A>G (p.Lys81Arg)
NM_005609.4(PYGM):c.243+20G>T
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys)
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val)
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)
NM_005609.4(PYGM):c.2501G>A (p.Arg834His)
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn)
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val) rs2058310112
NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys)
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn)
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.253T>C (p.Tyr85His)
NM_005609.4(PYGM):c.285G>T (p.Thr95=)
NM_005609.4(PYGM):c.298A>T (p.Met100Leu)
NM_005609.4(PYGM):c.307C>G (p.Leu103Val) rs2135840833
NM_005609.4(PYGM):c.316G>C (p.Glu106Gln)
NM_005609.4(PYGM):c.345+17_345+18delinsAA
NM_005609.4(PYGM):c.345G>C (p.Gln115His) rs2135840732
NM_005609.4(PYGM):c.346-5T>G
NM_005609.4(PYGM):c.358A>C (p.Met120Leu)
NM_005609.4(PYGM):c.358A>G (p.Met120Val)
NM_005609.4(PYGM):c.359T>C (p.Met120Thr)
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg) rs2058409644
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+4A>G
NM_005609.4(PYGM):c.424+5G>A
NM_005609.4(PYGM):c.454G>A (p.Gly152Ser)
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg) rs2135840127
NM_005609.4(PYGM):c.46G>A (p.Val16Met)
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp) rs2058407754
NM_005609.4(PYGM):c.471C>G (p.Gly157=)
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.484T>C (p.Tyr162His)
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
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.535G>C (p.Glu179Gln)
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.554G>A (p.Arg185His)
NM_005609.4(PYGM):c.578C>T (p.Ala193Val)
NM_005609.4(PYGM):c.586G>A (p.Glu196Lys)
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser)
NM_005609.4(PYGM):c.660+17G>A
NM_005609.4(PYGM):c.664G>C (p.Val222Leu)
NM_005609.4(PYGM):c.667C>G (p.Leu223Val) rs772025653
NM_005609.4(PYGM):c.674T>C (p.Met225Thr)
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.682G>A (p.Asp228Asn)
NM_005609.4(PYGM):c.682G>C (p.Asp228His)
NM_005609.4(PYGM):c.691G>A (p.Val231Met)
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala)
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
NM_005609.4(PYGM):c.728G>A (p.Arg243His) rs1312195500
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr)
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
NM_005609.4(PYGM):c.7C>G (p.Arg3Gly)
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly)
NM_005609.4(PYGM):c.828C>G (p.Ile276Met)
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro) rs775556109
NM_005609.4(PYGM):c.855+3G>A
NM_005609.4(PYGM):c.855+3G>T
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys)
NM_005609.4(PYGM):c.858C>A (p.Phe286Leu)
NM_005609.4(PYGM):c.878G>A (p.Arg293Gln)
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln)
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.932G>A (p.Arg311His)
NM_005609.4(PYGM):c.941C>A (p.Ser314Tyr)
NM_005609.4(PYGM):c.967G>T (p.Val323Leu) rs770104418
NM_005609.4(PYGM):c.968T>C (p.Val323Ala)
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly)
NM_005609.4(PYGM):c.974C>T (p.Thr325Met)
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile)
NM_005609.4(PYGM):c.982G>C (p.Asp328His) rs758682386
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu)
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln)
NM_005609.4(PYGM):c.999+6A>G
NM_005609.4(PYGM):c.999+9C>T rs183026465

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.