ClinVar Miner

List of variants in gene GYS1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP
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.(?_49481161)_(49496369_?)dup
NC_000019.9:g.(?_49485502)_(49486104_?)del
NM_002103.4(GYS1):c.-199T>C rs770497351
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002103.5(GYS1):c.*1044T>G rs886054564
NM_002103.5(GYS1):c.*110G>A
NM_002103.5(GYS1):c.*143C>G
NM_002103.5(GYS1):c.*229C>T
NM_002103.5(GYS1):c.*256G>A
NM_002103.5(GYS1):c.*26G>A rs886054567
NM_002103.5(GYS1):c.*357G>A
NM_002103.5(GYS1):c.*395C>T
NM_002103.5(GYS1):c.*413G>A
NM_002103.5(GYS1):c.*465G>A
NM_002103.5(GYS1):c.*472G>A rs886054566
NM_002103.5(GYS1):c.*59A>T
NM_002103.5(GYS1):c.*78C>T rs749720376
NM_002103.5(GYS1):c.*824del rs886054565
NM_002103.5(GYS1):c.*969C>T
NM_002103.5(GYS1):c.-125C>T rs2287754
NM_002103.5(GYS1):c.-157C>T rs748554746
NM_002103.5(GYS1):c.-171A>T
NM_002103.5(GYS1):c.-172T>C rs886054574
NM_002103.5(GYS1):c.-182T>G rs2287755
NM_002103.5(GYS1):c.-195T>A
NM_002103.5(GYS1):c.-19C>A rs2287753
NM_002103.5(GYS1):c.-26C>T rs202114467
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg)
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser)
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu) rs1131691586
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu)
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) rs751121252
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser)
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys) rs769215150
NM_002103.5(GYS1):c.1062+10G>A
NM_002103.5(GYS1):c.1063-4G>A
NM_002103.5(GYS1):c.1068C>T (p.Asn356=) rs746981890
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys)
NM_002103.5(GYS1):c.1077G>A (p.Glu359=) rs756998086
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys)
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)
NM_002103.5(GYS1):c.1083A>G (p.Thr361=) rs149865396
NM_002103.5(GYS1):c.1110G>A (p.Ala370=)
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln)
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser)
NM_002103.5(GYS1):c.1128C>T (p.Asn376=)
NM_002103.5(GYS1):c.1137C>T (p.Thr379=)
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser)
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp) rs886054571
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys)
NM_002103.5(GYS1):c.1155G>A (p.Val385=)
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)
NM_002103.5(GYS1):c.1169+13C>T
NM_002103.5(GYS1):c.1170-13C>T rs886054570
NM_002103.5(GYS1):c.1170-2A>G
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
NM_002103.5(GYS1):c.119-2_120del rs1422043936
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg) rs1600138867
NM_002103.5(GYS1):c.1204del (p.Arg402fs) rs1568619900
NM_002103.5(GYS1):c.1218A>G (p.Glu406=)
NM_002103.5(GYS1):c.1229+1G>A
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg) rs753922665
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447
NM_002103.5(GYS1):c.1278T>G (p.Thr426=)
NM_002103.5(GYS1):c.1279A>G (p.Met427Val)
NM_002103.5(GYS1):c.1288A>C (p.Arg430=)
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) rs147610727
NM_002103.5(GYS1):c.1308+5G>A rs779587345
NM_002103.5(GYS1):c.1308+8T>C rs371156570
NM_002103.5(GYS1):c.1309-4G>A rs112034326
NM_002103.5(GYS1):c.1309-8T>C
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn) rs1600135048
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr)
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala) rs142951866
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) rs377125421
NM_002103.5(GYS1):c.1338C>T (p.His446=)
NM_002103.5(GYS1):c.134C>T (p.Thr45Met)
NM_002103.5(GYS1):c.135G>A (p.Thr45=)
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser)
NM_002103.5(GYS1):c.1377C>T (p.Thr459=)
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) rs121434584
NM_002103.5(GYS1):c.1401T>C (p.Asn467=) rs574896397
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg)
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly)
NM_002103.5(GYS1):c.1416G>A (p.Arg472=)
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr)
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) rs144681053
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del)
NM_002103.5(GYS1):c.1473G>A (p.Val491=)
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val)
NM_002103.5(GYS1):c.147G>A (p.Thr49=)
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys)
NM_002103.5(GYS1):c.150G>A (p.Lys50=) rs1600154925
NM_002103.5(GYS1):c.1512C>T (p.Val504=)
NM_002103.5(GYS1):c.1518C>T (p.Pro506=)
NM_002103.5(GYS1):c.153G>A (p.Ala51=)
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448
NM_002103.5(GYS1):c.1548G>A (p.Pro516=)
NM_002103.5(GYS1):c.1549+10G>A
NM_002103.5(GYS1):c.1549+7G>A rs5449
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002103.5(GYS1):c.1704C>T (p.Thr568=)
NM_002103.5(GYS1):c.1749C>T (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg)
NM_002103.5(GYS1):c.1779C>T (p.Ser593=)
NM_002103.5(GYS1):c.177C>T (p.Gly59=) rs779646777
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn)
NM_002103.5(GYS1):c.1809+7C>T rs750481025
NM_002103.5(GYS1):c.1810-14C>T
NM_002103.5(GYS1):c.1810-6C>T rs112366219
NM_002103.5(GYS1):c.1810-7C>A
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr)
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly)
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro)
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val)
NM_002103.5(GYS1):c.1859A>G (p.His620Arg)
NM_002103.5(GYS1):c.1872G>A (p.Glu624=)
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys) rs962330001
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)
NM_002103.5(GYS1):c.1908C>T (p.Tyr636=)
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala) rs1600128045
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu) rs886054569
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly)
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp) rs886054568
NM_002103.5(GYS1):c.1995C>T (p.Asn665=)
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) rs748334413
NM_002103.5(GYS1):c.2001G>T (p.Pro667=)
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys)
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly)
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys)
NM_002103.5(GYS1):c.2021G>A (p.Arg674His)
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn)
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr)
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)
NM_002103.5(GYS1):c.2070A>G (p.Ala690=)
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe)
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser)
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe)
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly)
NM_002103.5(GYS1):c.213G>C (p.Gln71His) rs200998100
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys)
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
NM_002103.5(GYS1):c.217G>A (p.Val73Met)
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)
NM_002103.5(GYS1):c.2207del (p.Arg736fs)
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr)
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr) rs1600154718
NM_002103.5(GYS1):c.222G>A (p.Arg74=) rs748174034
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677
NM_002103.5(GYS1):c.235C>T (p.Leu79=) rs886054573
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu)
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe)
NM_002103.5(GYS1):c.300+3G>A
NM_002103.5(GYS1):c.300+7C>T rs759904590
NM_002103.5(GYS1):c.300+8G>A rs5454
NM_002103.5(GYS1):c.300G>A (p.Lys100=) rs886054572
NM_002103.5(GYS1):c.303G>A (p.Val101=)
NM_002103.5(GYS1):c.309C>T (p.Phe103=)
NM_002103.5(GYS1):c.314G>A (p.Arg105His) rs775388088
NM_002103.5(GYS1):c.324C>G (p.Ile108Met)
NM_002103.5(GYS1):c.348C>T (p.Leu116=)
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862
NM_002103.5(GYS1):c.362C>T (p.Ala121Val)
NM_002103.5(GYS1):c.375C>A (p.Ala125=)
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly) rs183816843
NM_002103.5(GYS1):c.3G>T (p.Met1Ile)
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg)
NM_002103.5(GYS1):c.417C>T (p.Ile139=) rs758550328
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg)
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu)
NM_002103.5(GYS1):c.438C>T (p.Arg146=)
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn)
NM_002103.5(GYS1):c.477C>G (p.Thr159=)
NM_002103.5(GYS1):c.492+10G>A
NM_002103.5(GYS1):c.492+9C>T rs191213443
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu) rs1199465827
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly)
NM_002103.5(GYS1):c.524T>C (p.Val175Ala)
NM_002103.5(GYS1):c.547T>C (p.Leu183=)
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser)
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298
NM_002103.5(GYS1):c.56A>T (p.Glu19Val)
NM_002103.5(GYS1):c.578C>T (p.Ala193Val)
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln)
NM_002103.5(GYS1):c.603C>T (p.Ile201=)
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys)
NM_002103.5(GYS1):c.637C>T (p.Leu213=) rs764668070
NM_002103.5(GYS1):c.645C>G (p.Ala215=)
NM_002103.5(GYS1):c.645C>T (p.Ala215=)
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser)
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys)
NM_002103.5(GYS1):c.650C>T (p.Ala217Val)
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
NM_002103.5(GYS1):c.652G>C (p.Val218Leu)
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys)
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys)
NM_002103.5(GYS1):c.678+1G>A
NM_002103.5(GYS1):c.681C>T (p.Phe227=)
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser)
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460
NM_002103.5(GYS1):c.699_700del (p.Arg236fs)
NM_002103.5(GYS1):c.704A>T (p.Glu235Val)
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln)
NM_002103.5(GYS1):c.741G>A (p.Ala247=) rs3745692
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr) rs376523274
NM_002103.5(GYS1):c.759C>T (p.His253=)
NM_002103.5(GYS1):c.760G>A (p.Val254Ile)
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys) rs138606563
NM_002103.5(GYS1):c.803A>T (p.His268Leu)
NM_002103.5(GYS1):c.80C>T (p.Ala27Val)
NM_002103.5(GYS1):c.813G>A (p.Lys271=) rs942457914
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del)
NM_002103.5(GYS1):c.872A>G (p.His291Arg)
NM_002103.5(GYS1):c.885C>T (p.Asn295=)
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter)
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter)
NM_002103.5(GYS1):c.927G>C (p.Arg309=)
NM_002103.5(GYS1):c.942-9G>A rs762629200
NM_002103.5(GYS1):c.944A>T (p.His315Leu)
NM_002103.5(GYS1):c.987C>T (p.Ala329=) rs180906371

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