ClinVar Miner

List of variants in gene GYS1 studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 504
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464 0.28606
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460 0.01434
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458 0.01301
NM_002103.5(GYS1):c.1549+7G>A rs5449 0.01125
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448 0.00719
NM_002103.5(GYS1):c.*256G>A rs148077948 0.00465
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677 0.00107
NM_002103.5(GYS1):c.*357G>A rs570639504 0.00061
NM_002103.5(GYS1):c.1810-6C>T rs112366219 0.00055
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala) rs142951866 0.00054
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_002103.5(GYS1):c.-19C>A rs2287753 0.00045
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser) rs145448665 0.00036
NM_002103.5(GYS1):c.213G>C (p.Gln71His) rs200998100 0.00035
NM_002103.5(GYS1):c.201G>A (p.Pro67=) rs140201404 0.00032
NM_002103.5(GYS1):c.1338C>T (p.His446=) rs139974904 0.00029
NM_002103.5(GYS1):c.*229C>T rs920764718 0.00023
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly) rs183816843 0.00022
NM_002103.5(GYS1):c.1890G>A (p.Ala630=) rs142457302 0.00019
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_002103.5(GYS1):c.1512C>T (p.Val504=) rs201028159 0.00018
NM_002103.5(GYS1):c.1810-19C>A rs367581750 0.00016
NM_002103.5(GYS1):c.255G>A (p.Pro85=) rs146417520 0.00016
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln) rs192597341 0.00015
NM_002103.5(GYS1):c.1068C>T (p.Asn356=) rs746981890 0.00014
NM_002103.5(GYS1):c.1390G>A (p.Gly464Ser) rs200862074 0.00014
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu) rs140774115 0.00014
NM_002103.5(GYS1):c.1308+8T>C rs371156570 0.00012
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser) rs201248933 0.00012
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892 0.00011
NM_002103.5(GYS1):c.942-20G>A rs368204451 0.00010
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595 0.00009
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) rs147610727 0.00009
NM_002103.5(GYS1):c.1083A>G (p.Thr361=) rs149865396 0.00008
NM_002103.5(GYS1):c.441G>A (p.Glu147=) rs115793204 0.00008
NM_002103.5(GYS1):c.987C>T (p.Ala329=) rs180906371 0.00008
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) rs144681053 0.00007
NM_002103.5(GYS1):c.300+7C>T rs759904590 0.00007
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298 0.00007
NM_002103.5(GYS1):c.*1044T>G rs886054564 0.00006
NM_002103.5(GYS1):c.1063-5C>T rs776549260 0.00006
NM_002103.5(GYS1):c.1077G>A (p.Glu359=) rs756998086 0.00006
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys) rs1003071543 0.00006
NM_002103.5(GYS1):c.1309-4G>A rs112034326 0.00006
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) rs377125421 0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002103.5(GYS1):c.1740G>A (p.Arg580=) rs773784707 0.00006
NM_002103.5(GYS1):c.177C>T (p.Gly59=) rs779646777 0.00006
NM_002103.5(GYS1):c.1995C>T (p.Asn665=) rs201072036 0.00006
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys) rs994882983 0.00006
NM_002103.5(GYS1):c.678+1G>A rs755305465 0.00006
NM_002103.5(GYS1):c.684C>T (p.Asn228=) rs202167827 0.00006
NM_002103.5(GYS1):c.824-14dup rs769641500 0.00006
NM_002103.5(GYS1):c.*395C>T rs112850979 0.00005
NM_002103.5(GYS1):c.1335C>T (p.Thr445=) rs753790981 0.00005
NM_002103.5(GYS1):c.1401T>C (p.Asn467=) rs574896397 0.00005
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg) rs748471233 0.00005
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys) rs962330001 0.00005
NM_002103.5(GYS1):c.1912C>T (p.Arg638Trp) rs768327651 0.00005
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu) rs137913986 0.00005
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys) rs574739791 0.00005
NM_002103.5(GYS1):c.759C>T (p.His253=) rs149182914 0.00005
NM_002103.5(GYS1):c.813G>A (p.Lys271=) rs942457914 0.00005
NM_002103.5(GYS1):c.*78C>T rs749720376 0.00004
NM_002103.5(GYS1):c.*969C>T rs900047388 0.00004
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser) rs776808234 0.00004
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln) rs369847599 0.00004
NM_002103.5(GYS1):c.1169+18C>T rs745793191 0.00004
NM_002103.5(GYS1):c.1279A>G (p.Met427Val) rs746669628 0.00004
NM_002103.5(GYS1):c.1416G>A (p.Arg472=) rs138480890 0.00004
NM_002103.5(GYS1):c.147G>A (p.Thr49=) rs748031807 0.00004
NM_002103.5(GYS1):c.1704C>T (p.Thr568=) rs760568725 0.00004
NM_002103.5(GYS1):c.1904G>A (p.Arg635His) rs200113836 0.00004
NM_002103.5(GYS1):c.206C>T (p.Thr69Met) rs760809851 0.00004
NM_002103.5(GYS1):c.251C>T (p.Thr84Ile) rs143186691 0.00004
NM_002103.5(GYS1):c.303G>A (p.Val101=) rs1391443496 0.00004
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862 0.00004
NM_002103.5(GYS1):c.477C>G (p.Thr159=) rs144548792 0.00004
NM_002103.5(GYS1):c.547T>C (p.Leu183=) rs147264448 0.00004
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys) rs150822415 0.00004
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys) rs141601517 0.00004
NM_002103.5(GYS1):c.652G>A (p.Val218Met) rs771977818 0.00004
NM_002103.5(GYS1):c.80C>T (p.Ala27Val) rs759088871 0.00004
NM_002103.5(GYS1):c.1057C>T (p.Leu353Phe) rs761016746 0.00003
NM_002103.5(GYS1):c.1102A>G (p.Met368Val) rs1239694022 0.00003
NM_002103.5(GYS1):c.1128C>T (p.Asn376=) rs763282805 0.00003
NM_002103.5(GYS1):c.1169+14G>A rs772135585 0.00003
NM_002103.5(GYS1):c.119-2_120del rs1422043936 0.00003
NM_002103.5(GYS1):c.152C>T (p.Ala51Val) rs780821674 0.00003
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn) rs781563966 0.00003
NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro) rs147627546 0.00003
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe) rs1375243403 0.00003
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly) rs776737199 0.00003
NM_002103.5(GYS1):c.222G>A (p.Arg74=) rs748174034 0.00003
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu) rs1045006240 0.00003
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu) rs1199465827 0.00003
NM_002103.5(GYS1):c.678C>T (p.Asn226=) rs760384808 0.00003
NM_002103.5(GYS1):c.741G>A (p.Ala247=) rs3745692 0.00003
NM_002103.5(GYS1):c.984C>T (p.Ile328=) rs769000809 0.00003
NM_002103.5(GYS1):c.-26C>T rs202114467 0.00002
NM_002103.5(GYS1):c.1020C>T (p.Asp340=) rs13306415 0.00002
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys) rs778215783 0.00002
NM_002103.5(GYS1):c.1079A>T (p.Gln360Leu) rs759812102 0.00002
NM_002103.5(GYS1):c.1122T>C (p.Asn374=) rs1300778334 0.00002
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg) rs753922665 0.00002
NM_002103.5(GYS1):c.1258C>T (p.Leu420=) rs761332247 0.00002
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala) rs775775270 0.00002
NM_002103.5(GYS1):c.146C>T (p.Thr49Met) rs748894032 0.00002
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys) rs766146709 0.00002
NM_002103.5(GYS1):c.1549+10G>A rs1249320184 0.00002
NM_002103.5(GYS1):c.1779C>T (p.Ser593=) rs372542706 0.00002
NM_002103.5(GYS1):c.1809+18C>A rs752499733 0.00002
NM_002103.5(GYS1):c.1810-18del rs746072387 0.00002
NM_002103.5(GYS1):c.1810-9T>C rs758217607 0.00002
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr) rs1205499394 0.00002
NM_002103.5(GYS1):c.309C>T (p.Phe103=) rs1390208595 0.00002
NM_002103.5(GYS1):c.492+8C>A rs751502676 0.00002
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln) rs1465178449 0.00002
NM_002103.5(GYS1):c.678+13C>T rs751882736 0.00002
NM_002103.5(GYS1):c.740C>T (p.Ala247Val) rs1318179540 0.00002
NM_002103.5(GYS1):c.803A>T (p.His268Leu) rs769630976 0.00002
NM_002103.5(GYS1):c.941+4C>T rs374388103 0.00002
NM_002103.5(GYS1):c.945T>A (p.His315Gln) rs2038779389 0.00002
NM_002103.5(GYS1):c.*110G>A rs1008518917 0.00001
NM_002103.5(GYS1):c.*413G>A rs1296511627 0.00001
NM_002103.5(GYS1):c.*472G>A rs886054566 0.00001
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg) rs1214342035 0.00001
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) rs751121252 0.00001
NM_002103.5(GYS1):c.1043G>A (p.Arg348Gln) rs767829857 0.00001
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys) rs769215150 0.00001
NM_002103.5(GYS1):c.1062+20G>A rs1166929573 0.00001
NM_002103.5(GYS1):c.1062+5G>A rs199937247 0.00001
NM_002103.5(GYS1):c.1063-4G>A rs201159254 0.00001
NM_002103.5(GYS1):c.1063-8C>T rs749468005 0.00001
NM_002103.5(GYS1):c.1110G>A (p.Ala370=) rs200386346 0.00001
NM_002103.5(GYS1):c.1155G>A (p.Val385=) rs1462804703 0.00001
NM_002103.5(GYS1):c.1169+13C>T rs775362871 0.00001
NM_002103.5(GYS1):c.1170-2A>G rs1219432457 0.00001
NM_002103.5(GYS1):c.1176G>A (p.Thr392=) rs151212573 0.00001
NM_002103.5(GYS1):c.1177G>A (p.Ala393Thr) rs1234293707 0.00001
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met) rs748765779 0.00001
NM_002103.5(GYS1):c.1242C>T (p.Pro414=) rs751382433 0.00001
NM_002103.5(GYS1):c.1261G>C (p.Asp421His) rs763908374 0.00001
NM_002103.5(GYS1):c.1308+5G>A rs779587345 0.00001
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu) rs756191455 0.00001
NM_002103.5(GYS1):c.135G>A (p.Thr45=) rs558436703 0.00001
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) rs121434584 0.00001
NM_002103.5(GYS1):c.1385G>A (p.Arg462Gln) rs774914573 0.00001
NM_002103.5(GYS1):c.1437G>A (p.Pro479=) rs752556651 0.00001
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val) rs949286022 0.00001
NM_002103.5(GYS1):c.1493G>A (p.Arg498His) rs757918424 0.00001
NM_002103.5(GYS1):c.1533T>C (p.Pro511=) rs764544117 0.00001
NM_002103.5(GYS1):c.153G>A (p.Ala51=) rs754432159 0.00001
NM_002103.5(GYS1):c.1544C>T (p.Thr515Ile) rs1395831465 0.00001
NM_002103.5(GYS1):c.1547C>T (p.Pro516Leu) rs907999376 0.00001
NM_002103.5(GYS1):c.1548G>A (p.Pro516=) rs1460204907 0.00001
NM_002103.5(GYS1):c.1718G>A (p.Ser573Asn) rs1207102551 0.00001
NM_002103.5(GYS1):c.1809+7C>T rs750481025 0.00001
NM_002103.5(GYS1):c.1810-14C>T rs2038529046 0.00001
NM_002103.5(GYS1):c.1810T>A (p.Tyr604Asn) rs2038528451 0.00001
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro) rs763358013 0.00001
NM_002103.5(GYS1):c.1859A>G (p.His620Arg) rs2038526603 0.00001
NM_002103.5(GYS1):c.1870G>A (p.Glu624Lys) rs757274657 0.00001
NM_002103.5(GYS1):c.1872G>A (p.Glu624=) rs1421512196 0.00001
NM_002103.5(GYS1):c.1891-11G>A rs1243119458 0.00001
NM_002103.5(GYS1):c.1910C>T (p.Pro637Leu) rs2038521859 0.00001
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu) rs886054569 0.00001
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp) rs886054568 0.00001
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys) rs1177489919 0.00001
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly) rs1416976109 0.00001
NM_002103.5(GYS1):c.200C>T (p.Pro67Leu) rs376369611 0.00001
NM_002103.5(GYS1):c.2012A>T (p.Asp671Val) rs780892427 0.00001
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys) rs1024472621 0.00001
NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs) rs2038518269 0.00001
NM_002103.5(GYS1):c.2038G>A (p.Glu680Lys) rs754310863 0.00001
NM_002103.5(GYS1):c.2110A>G (p.Ser704Gly) rs1201413420 0.00001
NM_002103.5(GYS1):c.2124C>G (p.Arg708=) rs1262661557 0.00001
NM_002103.5(GYS1):c.216C>T (p.Gly72=) rs773065230 0.00001
NM_002103.5(GYS1):c.217G>A (p.Val73Met) rs370035815 0.00001
NM_002103.5(GYS1):c.21G>C (p.Leu7Phe) rs1437155160 0.00001
NM_002103.5(GYS1):c.2203G>C (p.Glu735Gln) rs546920953 0.00001
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys) rs1369955206 0.00001
NM_002103.5(GYS1):c.2209A>T (p.Asn737Tyr) rs1042146137 0.00001
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr) rs1310157370 0.00001
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe) rs754411503 0.00001
NM_002103.5(GYS1):c.300+3G>A rs199823455 0.00001
NM_002103.5(GYS1):c.310G>A (p.Gly104Arg) rs763807232 0.00001
NM_002103.5(GYS1):c.314G>A (p.Arg105His) rs775388088 0.00001
NM_002103.5(GYS1):c.362C>T (p.Ala121Val) rs778349716 0.00001
NM_002103.5(GYS1):c.383G>A (p.Arg128His) rs755470149 0.00001
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg) rs754705699 0.00001
NM_002103.5(GYS1):c.438C>T (p.Arg146=) rs1395632551 0.00001
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn) rs548135246 0.00001
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly) rs2038838431 0.00001
NM_002103.5(GYS1):c.578C>T (p.Ala193Val) rs750379099 0.00001
NM_002103.5(GYS1):c.581G>A (p.Arg194Gln) rs1044957678 0.00001
NM_002103.5(GYS1):c.620C>T (p.Thr207Met) rs760191000 0.00001
NM_002103.5(GYS1):c.621G>A (p.Thr207=) rs767865045 0.00001
NM_002103.5(GYS1):c.637C>T (p.Leu213=) rs764668070 0.00001
NM_002103.5(GYS1):c.679-16del rs755898154 0.00001
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser) rs761764430 0.00001
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr) rs376523274 0.00001
NM_002103.5(GYS1):c.760G>A (p.Val254Ile) rs757728625 0.00001
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys) rs138606563 0.00001
NM_002103.5(GYS1):c.885C>T (p.Asn295=) rs2038787036 0.00001
NM_002103.5(GYS1):c.941+7G>A rs555810103 0.00001
NM_002103.5(GYS1):c.942-9G>A rs762629200 0.00001
NC_000019.10:g.(?_48977904)_(48993132_?)dup
NC_000019.10:g.(?_48977914)_(48993363_?)dup
NC_000019.10:g.(?_48987184)_(48987395_?)del
NC_000019.9:g.(?_49472545)_(49486114_?)dup
NC_000019.9:g.(?_49472545)_(49496369_?)dup
NC_000019.9:g.(?_49477450)_(49478010_?)del
NC_000019.9:g.(?_49481161)_(49489312_?)del
NC_000019.9:g.(?_49484767)_(49486114_?)del
NC_000019.9:g.(?_49485502)_(49486104_?)del
NC_000019.9:g.(?_49494539)_(49494760_?)del
NC_000019.9:g.(?_49494539)_(49496369_?)dup
NM_002103.5(GYS1):c.*143C>G rs995248958
NM_002103.5(GYS1):c.*26G>A rs886054567
NM_002103.5(GYS1):c.*465G>A rs2038501511
NM_002103.5(GYS1):c.*59A>T rs973667510
NM_002103.5(GYS1):c.1007A>G (p.Asn336Ser)
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser) rs2038777847
NM_002103.5(GYS1):c.1018G>A (p.Asp340Asn)
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu) rs1131691586
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu) rs13306415
NM_002103.5(GYS1):c.1042C>A (p.Arg348=)
NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro)
NM_002103.5(GYS1):c.1062+10G>A rs1025097657
NM_002103.5(GYS1):c.1062+11G>A
NM_002103.5(GYS1):c.1062+15A>G
NM_002103.5(GYS1):c.1063-17C>T
NM_002103.5(GYS1):c.1063-18T>G rs2122505836
NM_002103.5(GYS1):c.1063-19C>G
NM_002103.5(GYS1):c.1063-2A>G
NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly)
NM_002103.5(GYS1):c.1074C>T (p.Ser358=)
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys) rs2038765010
NM_002103.5(GYS1):c.1085T>C (p.Val362Ala)
NM_002103.5(GYS1):c.1087G>A (p.Val363Ile) rs1309992388
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser) rs2038763501
NM_002103.5(GYS1):c.1137C>T (p.Thr379=) rs2122505335
NM_002103.5(GYS1):c.1142A>C (p.Lys381Thr) rs1363049243
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser) rs1172290122
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp) rs886054571
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys) rs868354195
NM_002103.5(GYS1):c.1157G>A (p.Arg386His)
NM_002103.5(GYS1):c.1164G>A (p.Gln388=)
NM_002103.5(GYS1):c.1169+19G>A
NM_002103.5(GYS1):c.1169+9C>T rs766614540
NM_002103.5(GYS1):c.1170-13C>T rs886054570
NM_002103.5(GYS1):c.1170-20T>C
NM_002103.5(GYS1):c.1170-6C>G
NM_002103.5(GYS1):c.1170-6C>T rs903123136
NM_002103.5(GYS1):c.1185G>A (p.Thr395=)
NM_002103.5(GYS1):c.1185G>T (p.Thr395=) rs777198699
NM_002103.5(GYS1):c.119-14G>A
NM_002103.5(GYS1):c.119-15C>T
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg) rs1600138867
NM_002103.5(GYS1):c.1192_1193insCAAGG (p.Glu398fs)
NM_002103.5(GYS1):c.1194A>G (p.Glu398=)
NM_002103.5(GYS1):c.1200C>T (p.Phe400=)
NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg)
NM_002103.5(GYS1):c.1202G>A (p.Gly401Glu) rs1056476850
NM_002103.5(GYS1):c.1204del (p.Arg402fs) rs1568619900
NM_002103.5(GYS1):c.1218A>G (p.Glu406=) rs2122491545
NM_002103.5(GYS1):c.1229+15C>G
NM_002103.5(GYS1):c.1229+16T>G
NM_002103.5(GYS1):c.1229+19G>C rs1286503875
NM_002103.5(GYS1):c.1229+1G>A rs111911126
NM_002103.5(GYS1):c.1230-2A>G
NM_002103.5(GYS1):c.1255A>G (p.Met419Val)
NM_002103.5(GYS1):c.1269A>G (p.Glu423=)
NM_002103.5(GYS1):c.1278T>G (p.Thr426=) rs2038685440
NM_002103.5(GYS1):c.1288A>C (p.Arg430=) rs1429444927
NM_002103.5(GYS1):c.1299T>C (p.Phe433=)
NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)
NM_002103.5(GYS1):c.1308+20G>A
NM_002103.5(GYS1):c.1309-17T>C rs2122477632
NM_002103.5(GYS1):c.1309-20C>T
NM_002103.5(GYS1):c.1309-8T>C rs1555798424
NM_002103.5(GYS1):c.1309-9del
NM_002103.5(GYS1):c.1314G>A (p.Gln438=) rs2122477515
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn) rs1600135048
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr) rs142951866
NM_002103.5(GYS1):c.134C>T (p.Thr45Met) rs1600154972
NM_002103.5(GYS1):c.1362C>T (p.Asp454=)
NM_002103.5(GYS1):c.1363C>A (p.Pro455Thr)
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser) rs2038617042
NM_002103.5(GYS1):c.1377C>T (p.Thr459=) rs2038616834
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg) rs556352989
NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn)
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly) rs1306162963
NM_002103.5(GYS1):c.1423-10del
NM_002103.5(GYS1):c.1423-13T>A
NM_002103.5(GYS1):c.1423-15_1423-13del
NM_002103.5(GYS1):c.1423-20T>A
NM_002103.5(GYS1):c.1423-3C>T
NM_002103.5(GYS1):c.1423-4C>A rs1197579441
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr) rs2038611813
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del) rs764928908
NM_002103.5(GYS1):c.1473G>A (p.Val491=) rs2038611070
NM_002103.5(GYS1):c.1482G>A (p.Glu494=)
NM_002103.5(GYS1):c.14G>A (p.Arg5His)
NM_002103.5(GYS1):c.150G>A (p.Lys50=) rs1600154925
NM_002103.5(GYS1):c.150G>C (p.Lys50Asn)
NM_002103.5(GYS1):c.1518C>T (p.Pro506=) rs920576632
NM_002103.5(GYS1):c.1528G>A (p.Glu510Lys) rs1400682175
NM_002103.5(GYS1):c.1539del (p.Tyr514fs)
NM_002103.5(GYS1):c.1549+16dup
NM_002103.5(GYS1):c.1549+18G>C
NM_002103.5(GYS1):c.1549+19G>C rs2038608930
NM_002103.5(GYS1):c.1646-1_1647del rs2122461010
NM_002103.5(GYS1):c.1646-4A>G
NM_002103.5(GYS1):c.1646-6C>T
NM_002103.5(GYS1):c.1646-9C>G
NM_002103.5(GYS1):c.1662C>T (p.Asp554=)
NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn)
NM_002103.5(GYS1):c.168C>T (p.Asp56=)
NM_002103.5(GYS1):c.1698G>A (p.Gln566=)
NM_002103.5(GYS1):c.169G>A (p.Glu57Lys)
NM_002103.5(GYS1):c.169G>T (p.Glu57Ter)
NM_002103.5(GYS1):c.1716C>T (p.Tyr572=)
NM_002103.5(GYS1):c.1744C>T (p.Arg582Cys) rs770398662
NM_002103.5(GYS1):c.1749C>T (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.1763G>A (p.Arg588His)
NM_002103.5(GYS1):c.176G>A (p.Gly59Asp)
NM_002103.5(GYS1):c.1808G>C (p.Arg603Pro) rs143040823
NM_002103.5(GYS1):c.1809+13C>A
NM_002103.5(GYS1):c.1809+9C>G rs1327230198
NM_002103.5(GYS1):c.1810-11C>T
NM_002103.5(GYS1):c.1810-15C>T
NM_002103.5(GYS1):c.1810-19C>T rs367581750
NM_002103.5(GYS1):c.1810-20C>G
NM_002103.5(GYS1):c.1810-20C>T
NM_002103.5(GYS1):c.1810-7C>A rs778919596
NM_002103.5(GYS1):c.1810-7C>T
NM_002103.5(GYS1):c.1811A>G (p.Tyr604Cys)
NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys) rs760423376
NM_002103.5(GYS1):c.1815T>C (p.Tyr605=)
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr) rs2038528076
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly) rs767229493
NM_002103.5(GYS1):c.1825C>A (p.Arg609Ser) rs957644060
NM_002103.5(GYS1):c.1826G>A (p.Arg609His)
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val) rs773394859
NM_002103.5(GYS1):c.1836G>A (p.Ala612=)
NM_002103.5(GYS1):c.1839G>C (p.Leu613=)
NM_002103.5(GYS1):c.1846G>T (p.Ala616Ser)
NM_002103.5(GYS1):c.1865C>T (p.Thr622Ile) rs2038526450
NM_002103.5(GYS1):c.1882_1883delinsCT (p.Ala628Leu) rs2122454338
NM_002103.5(GYS1):c.1890+1G>T
NM_002103.5(GYS1):c.1891-19C>T
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val) rs764135201
NM_002103.5(GYS1):c.1899G>T (p.Gly633=) rs1555797705
NM_002103.5(GYS1):c.1908C>T (p.Tyr636=) rs2122453422
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala) rs1600128045
NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser)
NM_002103.5(GYS1):c.192G>A (p.Leu64=)
NM_002103.5(GYS1):c.1932G>A (p.Pro644=) rs1600127983
NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter)
NM_002103.5(GYS1):c.1962G>A (p.Pro654=) rs1274965475
NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter) rs1199839572
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly) rs2038519963
NM_002103.5(GYS1):c.1987C>T (p.Pro663Ser)
NM_002103.5(GYS1):c.198G>A (p.Gly66=)
NM_002103.5(GYS1):c.1994A>G (p.Asn665Ser)
NM_002103.5(GYS1):c.1995C>A (p.Asn665Lys)
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) rs748334413
NM_002103.5(GYS1):c.2001G>T (p.Pro667=) rs1164592345
NM_002103.5(GYS1):c.2007G>A (p.Glu669=)
NM_002103.5(GYS1):c.2016C>A (p.Gly672=) rs1213596695
NM_002103.5(GYS1):c.2021G>A (p.Arg674His) rs779582211
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn) rs2038518151
NM_002103.5(GYS1):c.2043C>A (p.Ala681=)
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr) rs1419163800
NM_002103.5(GYS1):c.2056C>T (p.Arg686Cys)
NM_002103.5(GYS1):c.2057G>A (p.Arg686His) rs1049444314
NM_002103.5(GYS1):c.2070A>G (p.Ala690=) rs1307896845
NM_002103.5(GYS1):c.2077T>A (p.Trp693Arg)
NM_002103.5(GYS1):c.2081C>G (p.Pro694Arg)
NM_002103.5(GYS1):c.2084_2085del (p.Arg695fs) rs2122451939
NM_002103.5(GYS1):c.2089G>C (p.Ala697Pro)
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe) rs928549424
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser) rs1298302518
NM_002103.5(GYS1):c.2132T>A (p.Val711Glu) rs893694315
NM_002103.5(GYS1):c.2138C>T (p.Thr713Met) rs771678316
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys) rs759776076
NM_002103.5(GYS1):c.2165del (p.Pro722fs) rs757063983
NM_002103.5(GYS1):c.2168G>A (p.Ser723Asn) rs1468841188
NM_002103.5(GYS1):c.2169C>A (p.Ser723Arg)
NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys) rs1053724936
NM_002103.5(GYS1):c.2178C>T (p.Leu726=) rs2122451246
NM_002103.5(GYS1):c.2182C>T (p.Pro728Ser)
NM_002103.5(GYS1):c.2198G>A (p.Gly733Asp) rs2122451107
NM_002103.5(GYS1):c.2207del (p.Arg736fs) rs2038513000
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr) rs1600154718
NM_002103.5(GYS1):c.235C>T (p.Leu79=) rs886054573
NM_002103.5(GYS1):c.243G>A (p.Glu81=)
NM_002103.5(GYS1):c.27G>C (p.Met9Ile) rs1568628315
NM_002103.5(GYS1):c.289A>G (p.Lys97Glu) rs764543224
NM_002103.5(GYS1):c.297C>T (p.Cys99=)
NM_002103.5(GYS1):c.300+11G>A rs201417230
NM_002103.5(GYS1):c.300+11G>T rs201417230
NM_002103.5(GYS1):c.300+11del
NM_002103.5(GYS1):c.300+7C>G
NM_002103.5(GYS1):c.300G>A (p.Lys100=) rs886054572
NM_002103.5(GYS1):c.301-10C>A
NM_002103.5(GYS1):c.301-10C>T rs2122525723
NM_002103.5(GYS1):c.301-16C>T
NM_002103.5(GYS1):c.301-2A>C rs2122525708
NM_002103.5(GYS1):c.324C>G (p.Ile108Met) rs5455
NM_002103.5(GYS1):c.334C>T (p.Pro112Ser)
NM_002103.5(GYS1):c.348C>T (p.Leu116=) rs1294127713
NM_002103.5(GYS1):c.359del (p.Gly120fs)
NM_002103.5(GYS1):c.375C>A (p.Ala125=) rs2038857803
NM_002103.5(GYS1):c.382C>T (p.Arg128Cys)
NM_002103.5(GYS1):c.38C>T (p.Pro13Leu) rs2122550059
NM_002103.5(GYS1):c.3G>T (p.Met1Ile) rs758161697
NM_002103.5(GYS1):c.405_420del (p.Asp135fs) rs2122525139
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg) rs753758690
NM_002103.5(GYS1):c.410G>A (p.Cys137Tyr) rs2038856931
NM_002103.5(GYS1):c.417C>T (p.Ile139=) rs758550328
NM_002103.5(GYS1):c.432C>T (p.Tyr144=)
NM_002103.5(GYS1):c.435C>T (p.Asp145=)
NM_002103.5(GYS1):c.437G>A (p.Arg146His)
NM_002103.5(GYS1):c.447C>T (p.Asn149=)
NM_002103.5(GYS1):c.448G>T (p.Asp150Tyr) rs548135246
NM_002103.5(GYS1):c.457C>G (p.Leu153Val)
NM_002103.5(GYS1):c.483C>T (p.Phe161=)
NM_002103.5(GYS1):c.488G>T (p.Gly163Val)
NM_002103.5(GYS1):c.489T>G (p.Gly163=)
NM_002103.5(GYS1):c.492+10G>A rs772808320
NM_002103.5(GYS1):c.492+16C>T
NM_002103.5(GYS1):c.492+17A>G
NM_002103.5(GYS1):c.495C>G (p.Phe165Leu)
NM_002103.5(GYS1):c.498G>A (p.Leu166=)
NM_002103.5(GYS1):c.517C>G (p.Pro173Ala)
NM_002103.5(GYS1):c.524T>C (p.Val175Ala) rs1432620791
NM_002103.5(GYS1):c.546G>A (p.Trp182Ter) rs1225603414
NM_002103.5(GYS1):c.568C>G (p.Leu190Val) rs1345491779
NM_002103.5(GYS1):c.56A>T (p.Glu19Val) rs2122549955
NM_002103.5(GYS1):c.580C>T (p.Arg194Trp) rs1455481597
NM_002103.5(GYS1):c.583C>T (p.Arg195Ter)
NM_002103.5(GYS1):c.601A>G (p.Ile201Val)
NM_002103.5(GYS1):c.603C>T (p.Ile201=) rs2122520643
NM_002103.5(GYS1):c.645C>G (p.Ala215=) rs371721154
NM_002103.5(GYS1):c.645C>T (p.Ala215=) rs371721154
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser) rs141601517
NM_002103.5(GYS1):c.647G>C (p.Gly216Ala) rs2038835260
NM_002103.5(GYS1):c.650C>T (p.Ala217Val) rs148365002
NM_002103.5(GYS1):c.652G>C (p.Val218Leu) rs771977818
NM_002103.5(GYS1):c.661T>G (p.Tyr221Asp)
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys) rs201548356
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys) rs201548356
NM_002103.5(GYS1):c.678+14G>A
NM_002103.5(GYS1):c.678+2T>G rs2122520177
NM_002103.5(GYS1):c.679-18C>T
NM_002103.5(GYS1):c.679-19G>A
NM_002103.5(GYS1):c.679-4C>G
NM_002103.5(GYS1):c.67G>A (p.Asp23Asn)
NM_002103.5(GYS1):c.681C>T (p.Phe227=) rs2122519311
NM_002103.5(GYS1):c.699_700del (p.Arg236fs) rs1345327745
NM_002103.5(GYS1):c.6T>C (p.Pro2=) rs2038966717
NM_002103.5(GYS1):c.704A>T (p.Glu235Val) rs2038830108
NM_002103.5(GYS1):c.714C>A (p.Ile238=)
NM_002103.5(GYS1):c.717C>T (p.Tyr239=) rs2038830065
NM_002103.5(GYS1):c.721C>T (p.Arg241Ter)
NM_002103.5(GYS1):c.786C>T (p.Thr262=)
NM_002103.5(GYS1):c.797C>T (p.Ala266Val) rs1253678206
NM_002103.5(GYS1):c.7_8del (p.Leu3fs)
NM_002103.5(GYS1):c.801G>A (p.Gln267=) rs2122518762
NM_002103.5(GYS1):c.816G>A (p.Arg272=)
NM_002103.5(GYS1):c.823+11G>A
NM_002103.5(GYS1):c.823+11_823+12del rs750236338
NM_002103.5(GYS1):c.823+13C>T
NM_002103.5(GYS1):c.823+20C>T rs1343844948
NM_002103.5(GYS1):c.827T>C (p.Ile276Thr) rs2038788050
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del) rs760885403
NM_002103.5(GYS1):c.867C>A (p.Ala289=)
NM_002103.5(GYS1):c.872A>G (p.His291Arg) rs967075263
NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter) rs1269675538
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter) rs2122509752
NM_002103.5(GYS1):c.926G>A (p.Arg309Gln) rs1183870445
NM_002103.5(GYS1):c.927G>C (p.Arg309=) rs2122509669
NM_002103.5(GYS1):c.929del (p.Gly310fs) rs2122509664
NM_002103.5(GYS1):c.941+10dup
NM_002103.5(GYS1):c.941+20A>G
NM_002103.5(GYS1):c.941+5G>A
NM_002103.5(GYS1):c.942-13G>C
NM_002103.5(GYS1):c.942-14del
NM_002103.5(GYS1):c.942-20G>T rs368204451
NM_002103.5(GYS1):c.944A>T (p.His315Leu) rs1432327187
NM_002103.5(GYS1):c.981T>C (p.Phe327=)
NM_002103.5(GYS1):c.985G>A (p.Ala329Thr)
NM_002103.5(GYS1):c.988G>C (p.Gly330Arg)
NM_002103.5(GYS1):c.98C>G (p.Ala33Gly)
NM_002103.5(GYS1):c.992G>C (p.Arg331Pro) rs1280294667
NM_002103.5(GYS1):c.996T>C (p.Tyr332=)

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.