ClinVar Miner

List of variants in gene GYS1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
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.1810-6C>T rs112366219 0.00055
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.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.1068C>T (p.Asn356=) rs746981890 0.00014
NM_002103.5(GYS1):c.1308+8T>C rs371156570 0.00012
NM_002103.5(GYS1):c.942-20G>A rs368204451 0.00010
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.300+7C>T rs759904590 0.00007
NM_002103.5(GYS1):c.1063-5C>T rs776549260 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.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.684C>T (p.Asn228=) rs202167827 0.00006
NM_002103.5(GYS1):c.824-14dup rs769641500 0.00006
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.759C>T (p.His253=) rs149182914 0.00005
NM_002103.5(GYS1):c.813G>A (p.Lys271=) rs942457914 0.00005
NM_002103.5(GYS1):c.1169+18C>T rs745793191 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.303G>A (p.Val101=) rs1391443496 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.1128C>T (p.Asn376=) rs763282805 0.00003
NM_002103.5(GYS1):c.1169+14G>A rs772135585 0.00003
NM_002103.5(GYS1):c.222G>A (p.Arg74=) rs748174034 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.1122T>C (p.Asn374=) rs1300778334 0.00002
NM_002103.5(GYS1):c.1258C>T (p.Leu420=) rs761332247 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.309C>T (p.Phe103=) rs1390208595 0.00002
NM_002103.5(GYS1):c.492+8C>A rs751502676 0.00002
NM_002103.5(GYS1):c.678+13C>T rs751882736 0.00002
NM_002103.5(GYS1):c.1062+20G>A rs1166929573 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.1176G>A (p.Thr392=) rs151212573 0.00001
NM_002103.5(GYS1):c.1242C>T (p.Pro414=) rs751382433 0.00001
NM_002103.5(GYS1):c.1437G>A (p.Pro479=) rs752556651 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.1809+7C>T rs750481025 0.00001
NM_002103.5(GYS1):c.1891-11G>A rs1243119458 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.438C>T (p.Arg146=) rs1395632551 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.885C>T (p.Asn295=) rs2038787036 0.00001
NM_002103.5(GYS1):c.941+7G>A rs555810103 0.00001
NM_002103.5(GYS1):c.1042C>A (p.Arg348=)
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.1074C>T (p.Ser358=)
NM_002103.5(GYS1):c.1137C>T (p.Thr379=) rs2122505335
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.1170-20T>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.1194A>G (p.Glu398=)
NM_002103.5(GYS1):c.1200C>T (p.Phe400=)
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.1269A>G (p.Glu423=)
NM_002103.5(GYS1):c.1288A>C (p.Arg430=) rs1429444927
NM_002103.5(GYS1):c.1299T>C (p.Phe433=)
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.1362C>T (p.Asp454=)
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.1423-4C>A rs1197579441
NM_002103.5(GYS1):c.1482G>A (p.Glu494=)
NM_002103.5(GYS1):c.150G>A (p.Lys50=) rs1600154925
NM_002103.5(GYS1):c.1518C>T (p.Pro506=) rs920576632
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.1646-4A>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.168C>T (p.Asp56=)
NM_002103.5(GYS1):c.1716C>T (p.Tyr572=)
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.1815T>C (p.Tyr605=)
NM_002103.5(GYS1):c.1836G>A (p.Ala612=)
NM_002103.5(GYS1):c.1839G>C (p.Leu613=)
NM_002103.5(GYS1):c.1891-19C>T
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.192G>A (p.Leu64=)
NM_002103.5(GYS1):c.1932G>A (p.Pro644=) rs1600127983
NM_002103.5(GYS1):c.1962G>A (p.Pro654=) rs1274965475
NM_002103.5(GYS1):c.198G>A (p.Gly66=)
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.2043C>A (p.Ala681=)
NM_002103.5(GYS1):c.2070A>G (p.Ala690=) rs1307896845
NM_002103.5(GYS1):c.2178C>T (p.Leu726=) rs2122451246
NM_002103.5(GYS1):c.235C>T (p.Leu79=) rs886054573
NM_002103.5(GYS1):c.243G>A (p.Glu81=)
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.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.348C>T (p.Leu116=) rs1294127713
NM_002103.5(GYS1):c.375C>A (p.Ala125=) rs2038857803
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.447C>T (p.Asn149=)
NM_002103.5(GYS1):c.483C>T (p.Phe161=)
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.498G>A (p.Leu166=)
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.678+14G>A
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.681C>T (p.Phe227=) rs2122519311
NM_002103.5(GYS1):c.6T>C (p.Pro2=) rs2038966717
NM_002103.5(GYS1):c.714C>A (p.Ile238=)
NM_002103.5(GYS1):c.717C>T (p.Tyr239=) rs2038830065
NM_002103.5(GYS1):c.786C>T (p.Thr262=)
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.867C>A (p.Ala289=)
NM_002103.5(GYS1):c.927G>C (p.Arg309=) rs2122509669
NM_002103.5(GYS1):c.941+20A>G
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.981T>C (p.Phe327=)
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.