ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by Invitae

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ClinVar version:
Total variants: 243
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala) rs142951866 0.00054
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.395A>G (p.Glu132Gly) rs183816843 0.00022
NM_002103.5(GYS1):c.1890G>A (p.Ala630=) rs142457302 0.00019
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln) rs192597341 0.00015
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.553G>A (p.Gly185Ser) rs201248933 0.00012
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892 0.00011
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595 0.00009
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) rs144681053 0.00007
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys) rs994882983 0.00006
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.1049A>G (p.Asn350Ser) rs776808234 0.00004
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln) rs369847599 0.00004
NM_002103.5(GYS1):c.1279A>G (p.Met427Val) rs746669628 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.2207G>A (p.Arg736His) rs367919986 0.00004
NM_002103.5(GYS1):c.251C>T (p.Thr84Ile) rs143186691 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.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.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.1075G>A (p.Glu359Lys) rs778215783 0.00002
NM_002103.5(GYS1):c.1079A>T (p.Gln360Leu) rs759812102 0.00002
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg) rs753922665 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.1559C>T (p.Thr520Met) rs747911098 0.00002
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr) rs1205499394 0.00002
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln) rs1465178449 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.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+5G>A rs199937247 0.00001
NM_002103.5(GYS1):c.1177G>A (p.Ala393Thr) rs1234293707 0.00001
NM_002103.5(GYS1):c.117G>C (p.Lys39Asn) rs1340897578 0.00001
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met) rs748765779 0.00001
NM_002103.5(GYS1):c.1261G>C (p.Asp421His) rs763908374 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.1385G>A (p.Arg462Gln) rs774914573 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.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.1594T>A (p.Ser532Thr) rs2038555927 0.00001
NM_002103.5(GYS1):c.1624A>G (p.Ile542Val) rs768029465 0.00001
NM_002103.5(GYS1):c.1718G>A (p.Ser573Asn) rs1207102551 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.1910C>T (p.Pro637Leu) rs2038521859 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.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.448G>A (p.Asp150Asn) rs548135246 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.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
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.(?_49481161)_(49489312_?)del
NC_000019.9:g.(?_49494539)_(49496369_?)dup
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.1020C>A (p.Asp340Glu) rs13306415
NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro)
NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly)
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.1142A>C (p.Lys381Thr) rs1363049243
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser) rs1172290122
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys) rs769788885
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys) rs868354195
NM_002103.5(GYS1):c.1157G>A (p.Arg386His)
NM_002103.5(GYS1):c.118+3_118+4delinsAG
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg) rs1600138867
NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg)
NM_002103.5(GYS1):c.1202G>A (p.Gly401Glu) rs1056476850
NM_002103.5(GYS1):c.1255A>G (p.Met419Val)
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.1363C>A (p.Pro455Thr)
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser) rs2038617042
NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn)
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly) rs1306162963
NM_002103.5(GYS1):c.1423-3C>T
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.14G>A (p.Arg5His)
NM_002103.5(GYS1):c.150G>C (p.Lys50Asn)
NM_002103.5(GYS1):c.1528G>A (p.Glu510Lys) rs1400682175
NM_002103.5(GYS1):c.1568G>A (p.Gly523Glu) rs2122462376
NM_002103.5(GYS1):c.1589A>G (p.Asn530Ser)
NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu)
NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn)
NM_002103.5(GYS1):c.1698G>A (p.Gln566=)
NM_002103.5(GYS1):c.169G>A (p.Glu57Lys)
NM_002103.5(GYS1):c.1744C>T (p.Arg582Cys) rs770398662
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.1811A>G (p.Tyr604Cys)
NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys) rs760423376
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.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.1898G>T (p.Gly633Val) rs764135201
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala) rs1600128045
NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser)
NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter)
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.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.2021G>A (p.Arg674His) rs779582211
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn) rs2038518151
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.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.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.27G>C (p.Met9Ile) rs1568628315
NM_002103.5(GYS1):c.289A>G (p.Lys97Glu) rs764543224
NM_002103.5(GYS1):c.324C>G (p.Ile108Met) rs5455
NM_002103.5(GYS1):c.334C>T (p.Pro112Ser)
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.40G>C (p.Gly14Arg) rs753758690
NM_002103.5(GYS1):c.410G>A (p.Cys137Tyr) rs2038856931
NM_002103.5(GYS1):c.437G>A (p.Arg146His)
NM_002103.5(GYS1):c.448G>T (p.Asp150Tyr) rs548135246
NM_002103.5(GYS1):c.457C>G (p.Leu153Val)
NM_002103.5(GYS1):c.488G>T (p.Gly163Val)
NM_002103.5(GYS1):c.495C>G (p.Phe165Leu)
NM_002103.5(GYS1):c.517C>G (p.Pro173Ala)
NM_002103.5(GYS1):c.524T>C (p.Val175Ala) rs1432620791
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.601A>G (p.Ile201Val)
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.67G>A (p.Asp23Asn)
NM_002103.5(GYS1):c.704A>T (p.Glu235Val) rs2038830108
NM_002103.5(GYS1):c.797C>T (p.Ala266Val) rs1253678206
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.872A>G (p.His291Arg) rs967075263
NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)
NM_002103.5(GYS1):c.926G>A (p.Arg309Gln) rs1183870445
NM_002103.5(GYS1):c.941+5G>A
NM_002103.5(GYS1):c.944A>T (p.His315Leu) rs1432327187
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

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