ClinVar Miner

List of variants in gene GUSB studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 546
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_000181.4(GUSB):c.*172A>G rs77293332 0.02406
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256 0.00755
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169 0.00351
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018 0.00250
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970 0.00208
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888 0.00197
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000181.4(GUSB):c.*94A>G rs536903750 0.00118
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln) rs140709901 0.00063
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00052
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538 0.00045
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327 0.00022
NM_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_000181.4(GUSB):c.147C>T (p.Ala49=) rs375940373 0.00017
NM_000181.4(GUSB):c.54C>T (p.Gly18=) rs759514074 0.00017
NM_000181.4(GUSB):c.1020G>A (p.Gly340=) rs372851133 0.00016
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys) rs143040697 0.00016
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser) rs138618819 0.00016
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00015
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn) rs371314015 0.00015
NM_000181.4(GUSB):c.933G>A (p.Thr311=) rs188921177 0.00014
NM_000181.4(GUSB):c.918G>T (p.Gln306His) rs375828604 0.00012
NM_000181.4(GUSB):c.447C>T (p.Phe149=) rs148364905 0.00011
NM_000181.4(GUSB):c.582-17C>T rs760650363 0.00011
NM_000181.4(GUSB):c.202C>T (p.Leu68=) rs746199104 0.00010
NM_000181.4(GUSB):c.-10A>T rs540793200 0.00009
NM_000181.4(GUSB):c.1244+17C>T rs199587731 0.00009
NM_000181.4(GUSB):c.211-18C>T rs774828816 0.00008
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr) rs752854143 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000181.4(GUSB):c.1065C>T (p.Asp355=) rs758070679 0.00006
NM_000181.4(GUSB):c.1066-5C>T rs376501876 0.00006
NM_000181.4(GUSB):c.1213G>A (p.Asp405Asn) rs200149500 0.00006
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000181.4(GUSB):c.807C>T (p.Val269=) rs571704452 0.00006
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn) rs760452541 0.00006
NM_000181.4(GUSB):c.105G>C (p.Ser35=) rs758743865 0.00005
NM_000181.4(GUSB):c.1137C>T (p.Asn379=) rs371271170 0.00005
NM_000181.4(GUSB):c.211-8C>G rs2293340 0.00005
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr) rs11559281 0.00005
NM_000181.4(GUSB):c.1121G>A (p.Arg374His) rs780716481 0.00004
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr) rs377615121 0.00004
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val) rs752523400 0.00004
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu) rs751025746 0.00004
NM_000181.4(GUSB):c.1789+9C>T rs545446158 0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172 0.00004
NM_000181.4(GUSB):c.324G>A (p.Pro108=) rs546131174 0.00004
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900 0.00004
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu) rs200941434 0.00004
NM_000181.4(GUSB):c.-20C>T rs577269089 0.00003
NM_000181.4(GUSB):c.1224C>T (p.Pro408=) rs757418833 0.00003
NM_000181.4(GUSB):c.1470C>T (p.Asp490=) rs143084006 0.00003
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met) rs765983374 0.00003
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00003
NM_000181.4(GUSB):c.1857G>A (p.Ala619=) rs779147312 0.00003
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu) rs1268678201 0.00003
NM_000181.4(GUSB):c.633C>T (p.Tyr211=) rs140278510 0.00003
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648 0.00002
NM_000181.4(GUSB):c.1066-16C>T rs758677498 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1193G>A (p.Arg398His) rs776843811 0.00002
NM_000181.4(GUSB):c.1244+1G>A rs765969571 0.00002
NM_000181.4(GUSB):c.1270C>A (p.His424Asn) rs866996794 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000181.4(GUSB):c.1654-4C>T rs563449417 0.00002
NM_000181.4(GUSB):c.1790-2dup rs764071830 0.00002
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg) rs776024156 0.00002
NM_000181.4(GUSB):c.347G>A (p.Arg116His) rs538431094 0.00002
NM_000181.4(GUSB):c.397-19G>A rs759668020 0.00002
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro) rs755465262 0.00002
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104 0.00002
NM_000181.4(GUSB):c.813G>A (p.Ala271=) rs150999162 0.00002
NM_000181.4(GUSB):c.*55C>T rs372605666 0.00001
NM_000181.4(GUSB):c.-19G>C rs771999951 0.00001
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911 0.00001
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00001
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175 0.00001
NM_000181.4(GUSB):c.1065+4T>C rs778151820 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu) rs771629102 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000181.4(GUSB):c.1212C>T (p.Ile404=) rs375214425 0.00001
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser) rs779091113 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val) rs763845326 0.00001
NM_000181.4(GUSB):c.1326G>A (p.Ala442=) rs1226319325 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter) rs1210475838 0.00001
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) rs769252159 0.00001
NM_000181.4(GUSB):c.1741G>A (p.Val581Met) rs150304382 0.00001
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg) rs757015172 0.00001
NM_000181.4(GUSB):c.1791A>G (p.Ser597=) rs767115386 0.00001
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu) rs1325465494 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met) rs756035101 0.00001
NM_000181.4(GUSB):c.1929A>G (p.Gln643=) rs764493374 0.00001
NM_000181.4(GUSB):c.196C>T (p.Arg66Trp) rs776085845 0.00001
NM_000181.4(GUSB):c.200C>T (p.Pro67Leu) rs948834547 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly) rs767239546 0.00001
NM_000181.4(GUSB):c.394G>A (p.Val132Met) rs769151272 0.00001
NM_000181.4(GUSB):c.396+15G>T rs757135258 0.00001
NM_000181.4(GUSB):c.414C>T (p.Asp138=) rs1444763456 0.00001
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp) rs771137253 0.00001
NM_000181.4(GUSB):c.581+16C>T rs768612200 0.00001
NM_000181.4(GUSB):c.581+8C>T rs527730129 0.00001
NM_000181.4(GUSB):c.613T>C (p.Tyr205His) rs367989163 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000181.4(GUSB):c.658C>G (p.Leu220Val) rs760324067 0.00001
NM_000181.4(GUSB):c.666G>A (p.Thr222=) rs773822519 0.00001
NM_000181.4(GUSB):c.669A>T (p.Thr223=) rs201178083 0.00001
NM_000181.4(GUSB):c.681C>T (p.Tyr227=) rs1791831745 0.00001
NM_000181.4(GUSB):c.760A>C (p.Asn254His) rs150086524 0.00001
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp) rs750955623 0.00001
NM_000181.4(GUSB):c.861C>T (p.Leu287=) rs753430922 0.00001
NM_000181.4(GUSB):c.870G>A (p.Pro290=) rs377665214 0.00001
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) rs1451709678 0.00001
NM_000181.4(GUSB):c.955T>C (p.Phe319Leu) rs757549474 0.00001
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser) rs886044680 0.00001
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00001
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.14:g.(?_65960877)_(65982203_?)dup
NC_000007.14:g.(?_65967711)_(65970386_?)del
NC_000007.14:g.(?_65970262)_(65970386_?)del
NC_000007.14:g.(?_65974275)_(65982203_?)del
NC_000007.14:g.65974442del
NM_000181.4(GUSB):c.*12A>G rs769514976
NM_000181.4(GUSB):c.*148A>G rs568655640
NM_000181.4(GUSB):c.*154G>A rs1790427973
NM_000181.4(GUSB):c.*208T>C rs190201470
NM_000181.4(GUSB):c.*208T>G rs190201470
NM_000181.4(GUSB):c.1002C>T (p.Ser334=) rs1166045525
NM_000181.4(GUSB):c.1026T>G (p.Pro342=)
NM_000181.4(GUSB):c.1038C>T (p.His346=)
NM_000181.4(GUSB):c.1044C>T (p.Val348=)
NM_000181.4(GUSB):c.1046A>G (p.Asn349Ser)
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) rs121918182
NM_000181.4(GUSB):c.1056G>A (p.Glu352=)
NM_000181.4(GUSB):c.1065+11G>A
NM_000181.4(GUSB):c.1065+18G>A
NM_000181.4(GUSB):c.1066-11C>T
NM_000181.4(GUSB):c.1066-20T>C
NM_000181.4(GUSB):c.1066-4del
NM_000181.4(GUSB):c.1066-6T>C
NM_000181.4(GUSB):c.1066-6_1066-5del
NM_000181.4(GUSB):c.1066-7C>A
NM_000181.4(GUSB):c.1066-9A>G
NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu)
NM_000181.4(GUSB):c.1077G>A (p.Lys359=)
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) rs1264172545
NM_000181.4(GUSB):c.1083C>T (p.Phe361=)
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del) rs1791443181
NM_000181.4(GUSB):c.1092G>A (p.Pro364=)
NM_000181.4(GUSB):c.1096C>T (p.Leu366=)
NM_000181.4(GUSB):c.1098G>A (p.Leu366=)
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg)
NM_000181.4(GUSB):c.1116G>A (p.Leu372=)
NM_000181.4(GUSB):c.1119T>G (p.Leu373=)
NM_000181.4(GUSB):c.111G>A (p.Glu37=)
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg)
NM_000181.4(GUSB):c.1134C>T (p.Ala378=)
NM_000181.4(GUSB):c.1135A>T (p.Asn379Tyr) rs1207640167
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser) rs1289930946
NM_000181.4(GUSB):c.1143C>T (p.Phe381=)
NM_000181.4(GUSB):c.1149C>T (p.Thr383=)
NM_000181.4(GUSB):c.114C>T (p.Cys38=)
NM_000181.4(GUSB):c.1161C>G (p.Pro387=) rs1791437300
NM_000181.4(GUSB):c.1167A>C (p.Ala389=)
NM_000181.4(GUSB):c.1167A>G (p.Ala389=)
NM_000181.4(GUSB):c.117G>A (p.Lys39=)
NM_000181.4(GUSB):c.1182G>A (p.Gln394=)
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala) rs1355624664
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
NM_000181.4(GUSB):c.120G>A (p.Glu40=)
NM_000181.4(GUSB):c.1227C>T (p.Gly409=)
NM_000181.4(GUSB):c.1230G>C (p.Val410=)
NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp)
NM_000181.4(GUSB):c.1239G>A (p.Ala413=)
NM_000181.4(GUSB):c.1244+15T>C
NM_000181.4(GUSB):c.1244+16G>A
NM_000181.4(GUSB):c.1244+19C>T
NM_000181.4(GUSB):c.1244+20C>G
NM_000181.4(GUSB):c.1245-11C>T
NM_000181.4(GUSB):c.1245-14C>T
NM_000181.4(GUSB):c.1245-19C>A
NM_000181.4(GUSB):c.1245-19C>T rs995961802
NM_000181.4(GUSB):c.1245-4G>T rs548368848
NM_000181.4(GUSB):c.1245-5C>T
NM_000181.4(GUSB):c.1245-8G>A
NM_000181.4(GUSB):c.1273C>A (p.His425Asn)
NM_000181.4(GUSB):c.1275C>T (p.His425=)
NM_000181.4(GUSB):c.1285G>A (p.Val429Met)
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu)
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu) rs768428238
NM_000181.4(GUSB):c.129C>A (p.Gly43=)
NM_000181.4(GUSB):c.12G>A (p.Gly4=)
NM_000181.4(GUSB):c.1300G>A (p.Val434Met)
NM_000181.4(GUSB):c.1320C>T (p.His440=)
NM_000181.4(GUSB):c.1323C>T (p.Pro441=)
NM_000181.4(GUSB):c.1326G>C (p.Ala442=)
NM_000181.4(GUSB):c.1330G>A (p.Val444Met)
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter) rs121918180
NM_000181.4(GUSB):c.1341T>C (p.Ser447=)
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser) rs2115949680
NM_000181.4(GUSB):c.1350C>T (p.Asn450=)
NM_000181.4(GUSB):c.1356T>C (p.Pro452=)
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val) rs912985278
NM_000181.4(GUSB):c.1374T>C (p.Ser458=)
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe)
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=)
NM_000181.4(GUSB):c.138C>T (p.Ser46=)
NM_000181.4(GUSB):c.1391+11C>T
NM_000181.4(GUSB):c.1391+12C>T
NM_000181.4(GUSB):c.1391+13T>G
NM_000181.4(GUSB):c.1391+14C>T
NM_000181.4(GUSB):c.1391+17T>C
NM_000181.4(GUSB):c.1391+18G>C
NM_000181.4(GUSB):c.1391+5G>A
NM_000181.4(GUSB):c.1391+618_1391+619del rs786200863
NM_000181.4(GUSB):c.1392-12T>C
NM_000181.4(GUSB):c.1392-14C>T
NM_000181.4(GUSB):c.1401C>A (p.Ile467=)
NM_000181.4(GUSB):c.1401C>T (p.Ile467=)
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr)
NM_000181.4(GUSB):c.1417T>C (p.Leu473=)
NM_000181.4(GUSB):c.141C>T (p.Phe47=)
NM_000181.4(GUSB):c.1421A>G (p.Asp474Gly)
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)
NM_000181.4(GUSB):c.1425C>T (p.Pro475=) rs1791109537
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln)
NM_000181.4(GUSB):c.1431G>A (p.Arg477=)
NM_000181.4(GUSB):c.1431G>T (p.Arg477=)
NM_000181.4(GUSB):c.1455T>C (p.Ser485=)
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn)
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly) rs2115900875
NM_000181.4(GUSB):c.1476+10G>A
NM_000181.4(GUSB):c.1476+13G>T
NM_000181.4(GUSB):c.1476+13del rs2115900599
NM_000181.4(GUSB):c.1476+13dup
NM_000181.4(GUSB):c.1476+15C>T
NM_000181.4(GUSB):c.1476+16C>T
NM_000181.4(GUSB):c.1476+18C>A
NM_000181.4(GUSB):c.1476+18C>T
NM_000181.4(GUSB):c.1476+20C>A
NM_000181.4(GUSB):c.1476+20C>T
NM_000181.4(GUSB):c.1476+3G>A rs886042522
NM_000181.4(GUSB):c.1476_1476+13del
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu)
NM_000181.4(GUSB):c.15G>A (p.Ser5=)
NM_000181.4(GUSB):c.1654-10T>C
NM_000181.4(GUSB):c.1654-10T>G
NM_000181.4(GUSB):c.1654-11T>C
NM_000181.4(GUSB):c.1654-12C>G
NM_000181.4(GUSB):c.1654-12C>T
NM_000181.4(GUSB):c.1654-14G>A
NM_000181.4(GUSB):c.1654-14G>T
NM_000181.4(GUSB):c.1654-1G>A
NM_000181.4(GUSB):c.1654-3T>C
NM_000181.4(GUSB):c.1654-7A>G
NM_000181.4(GUSB):c.1654-9G>A
NM_000181.4(GUSB):c.1663C>T (p.Leu555=)
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly) rs772676579
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg)
NM_000181.4(GUSB):c.1704G>A (p.Gln568=)
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) rs121918183
NM_000181.4(GUSB):c.1742T>C (p.Val581Ala)
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
NM_000181.4(GUSB):c.1770C>T (p.Ala590=)
NM_000181.4(GUSB):c.177C>T (p.Phe59=)
NM_000181.4(GUSB):c.1782T>C (p.Thr594=)
NM_000181.4(GUSB):c.1782T>G (p.Thr594=)
NM_000181.4(GUSB):c.1783del (p.Glu595fs)
NM_000181.4(GUSB):c.1789+10A>C
NM_000181.4(GUSB):c.1790-11T>C
NM_000181.4(GUSB):c.1790-11T>G
NM_000181.4(GUSB):c.1790-18T>C
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1790-20T>A
NM_000181.4(GUSB):c.1790-21_1790-20del
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala)
NM_000181.4(GUSB):c.1794G>A (p.Pro598=)
NM_000181.4(GUSB):c.1797G>A (p.Thr599=)
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu)
NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)
NM_000181.4(GUSB):c.1804C>T (p.Leu602=)
NM_000181.4(GUSB):c.1809G>A (p.Gly603=)
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
NM_000181.4(GUSB):c.180G>A (p.Glu60=)
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile)
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln) rs1583879945
NM_000181.4(GUSB):c.1834del (p.Gln612fs) rs1085307069
NM_000181.4(GUSB):c.1854A>G (p.Ala618=)
NM_000181.4(GUSB):c.1857G>C (p.Ala619=)
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro)
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg) rs571736757
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs) rs935464108
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys)
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter) rs1236992554
NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr)
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr)
NM_000181.4(GUSB):c.1896A>G (p.Glu632=)
NM_000181.4(GUSB):c.18G>A (p.Ala6=)
NM_000181.4(GUSB):c.18G>C (p.Ala6=)
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=)
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
NM_000181.4(GUSB):c.1911C>T (p.His637=)
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro) rs1790444883
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1926A>G (p.Ser642=)
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter)
NM_000181.4(GUSB):c.192C>T (p.Tyr64=)
NM_000181.4(GUSB):c.1945C>T (p.Leu649=)
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
NM_000181.4(GUSB):c.201G>T (p.Pro67=)
NM_000181.4(GUSB):c.210+13G>A
NM_000181.4(GUSB):c.210+16A>C
NM_000181.4(GUSB):c.210+20C>T
NM_000181.4(GUSB):c.210+5G>A
NM_000181.4(GUSB):c.210+5G>C
NM_000181.4(GUSB):c.211-15C>T
NM_000181.4(GUSB):c.211-16G>A
NM_000181.4(GUSB):c.211-17G>A
NM_000181.4(GUSB):c.211-17G>C rs749802416
NM_000181.4(GUSB):c.211-18C>G
NM_000181.4(GUSB):c.211-20C>G
NM_000181.4(GUSB):c.211-20C>T
NM_000181.4(GUSB):c.211-7T>C rs1299733589
NM_000181.4(GUSB):c.222C>G (p.Thr74=)
NM_000181.4(GUSB):c.229A>G (p.Met77Val)
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser) rs376505707
NM_000181.4(GUSB):c.230T>G (p.Met77Arg) rs751845855
NM_000181.4(GUSB):c.238C>G (p.Pro80Ala)
NM_000181.4(GUSB):c.240C>T (p.Pro80=)
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn)
NM_000181.4(GUSB):c.24C>T (p.Ala8=)
NM_000181.4(GUSB):c.24del (p.Trp9fs)
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser)
NM_000181.4(GUSB):c.252T>C (p.Asn84=)
NM_000181.4(GUSB):c.288C>T (p.Val96=)
NM_000181.4(GUSB):c.297G>A (p.Val99=)
NM_000181.4(GUSB):c.2T>G (p.Met1Arg)
NM_000181.4(GUSB):c.303C>T (p.Tyr101=)
NM_000181.4(GUSB):c.306A>G (p.Glu102=) rs2116042007
NM_000181.4(GUSB):c.309G>A (p.Arg103=)
NM_000181.4(GUSB):c.30G>A (p.Ala10=)
NM_000181.4(GUSB):c.320del (p.Leu107fs)
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg) rs1791915416
NM_000181.4(GUSB):c.342C>T (p.Asp114=)
NM_000181.4(GUSB):c.366G>A (p.Arg122=)
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.36C>T (p.Leu12=)
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg) rs2116040590
NM_000181.4(GUSB):c.380A>G (p.His127Arg) rs765699404
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)
NM_000181.4(GUSB):c.388G>A (p.Ala130Thr)
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu) rs1237078772
NM_000181.4(GUSB):c.390C>T (p.Ala130=)
NM_000181.4(GUSB):c.393C>T (p.Ile131=)
NM_000181.4(GUSB):c.396+13A>G
NM_000181.4(GUSB):c.396+14G>A
NM_000181.4(GUSB):c.396+15G>C
NM_000181.4(GUSB):c.396+17G>A
NM_000181.4(GUSB):c.396+1G>A
NM_000181.4(GUSB):c.396+8C>T
NM_000181.4(GUSB):c.396+9G>A
NM_000181.4(GUSB):c.397-10G>A
NM_000181.4(GUSB):c.397-10G>C
NM_000181.4(GUSB):c.397-15C>T
NM_000181.4(GUSB):c.397-19G>T
NM_000181.4(GUSB):c.397-20dup rs765594686
NM_000181.4(GUSB):c.397-9del
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
NM_000181.4(GUSB):c.408G>A (p.Gly136=)
NM_000181.4(GUSB):c.411C>T (p.Val137=)
NM_000181.4(GUSB):c.417G>A (p.Thr139=)
NM_000181.4(GUSB):c.420A>C (p.Leu140=)
NM_000181.4(GUSB):c.429G>A (p.Glu143=)
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp)
NM_000181.4(GUSB):c.42G>T (p.Pro14=)
NM_000181.4(GUSB):c.430G>T (p.Gly144Trp)
NM_000181.4(GUSB):c.434del (p.Gly145fs)
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) rs121918177
NM_000181.4(GUSB):c.444C>T (p.Pro148=)
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp) rs764486500
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.453C>T (p.Ala151=)
NM_000181.4(GUSB):c.456C>T (p.Asp152=) rs1420034681
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.462C>T (p.Ser154=)
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet)
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys)
NM_000181.4(GUSB):c.466C>T (p.Leu156=) rs1410086265
NM_000181.4(GUSB):c.484C>T (p.Leu162=)
NM_000181.4(GUSB):c.486G>A (p.Leu162=)
NM_000181.4(GUSB):c.48G>A (p.Leu16=)
NM_000181.4(GUSB):c.492C>T (p.Ser164=)
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
NM_000181.4(GUSB):c.501A>C (p.Arg167=)
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
NM_000181.4(GUSB):c.525A>G (p.Thr175=)
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) rs587779400
NM_000181.4(GUSB):c.531C>A (p.Thr177=) rs1392513223
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser) rs11559281
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile) rs1427132394
NM_000181.4(GUSB):c.552G>A (p.Gly184=) rs768029322
NM_000181.4(GUSB):c.555C>G (p.Thr185=)
NM_000181.4(GUSB):c.555C>T (p.Thr185=)
NM_000181.4(GUSB):c.556A>C (p.Ile186Leu)
NM_000181.4(GUSB):c.560_581+13del
NM_000181.4(GUSB):c.570T>C (p.Thr190=)
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102
NM_000181.4(GUSB):c.581+10A>G rs1233559582
NM_000181.4(GUSB):c.581+12C>G
NM_000181.4(GUSB):c.581+17C>T
NM_000181.4(GUSB):c.581+1G>A
NM_000181.4(GUSB):c.581+20C>T
NM_000181.4(GUSB):c.581+8C>G
NM_000181.4(GUSB):c.581+9C>T
NM_000181.4(GUSB):c.582-12C>G
NM_000181.4(GUSB):c.582-12C>T
NM_000181.4(GUSB):c.582-15G>A
NM_000181.4(GUSB):c.582-19C>G
NM_000181.4(GUSB):c.582-20C>G
NM_000181.4(GUSB):c.582-3T>G
NM_000181.4(GUSB):c.582-7A>C
NM_000181.4(GUSB):c.582-9C>T
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
NM_000181.4(GUSB):c.60G>A (p.Ala20=)
NM_000181.4(GUSB):c.612A>G (p.Thr204=)
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys) rs2116029247
NM_000181.4(GUSB):c.615T>C (p.Tyr205=)
NM_000181.4(GUSB):c.621C>T (p.Asp207=)
NM_000181.4(GUSB):c.639A>G (p.Gly213=)
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln) rs1791836120
NM_000181.4(GUSB):c.657T>G (p.Leu219=) rs764393614
NM_000181.4(GUSB):c.658C>T (p.Leu220=)
NM_000181.4(GUSB):c.666G>T (p.Thr222=)
NM_000181.4(GUSB):c.66G>A (p.Gly22=)
NM_000181.4(GUSB):c.66G>T (p.Gly22=)
NM_000181.4(GUSB):c.684C>T (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.694A>G (p.Thr232Ala) rs1332406445
NM_000181.4(GUSB):c.695C>T (p.Thr232Ile)
NM_000181.4(GUSB):c.696C>T (p.Thr232=)
NM_000181.4(GUSB):c.6C>G (p.Ala2=)
NM_000181.4(GUSB):c.6C>T (p.Ala2=)
NM_000181.4(GUSB):c.708C>T (p.Ser236=)
NM_000181.4(GUSB):c.724+17G>C rs2116026712
NM_000181.4(GUSB):c.724+1G>T rs2116026958
NM_000181.4(GUSB):c.724+23TC[3] rs3830444
NM_000181.4(GUSB):c.725-11G>A
NM_000181.4(GUSB):c.725-12T>C
NM_000181.4(GUSB):c.725-14C>A
NM_000181.4(GUSB):c.725-18C>A
NM_000181.4(GUSB):c.725-18C>G rs754699640
NM_000181.4(GUSB):c.725-18C>T
NM_000181.4(GUSB):c.725-18CT[2] rs1173385478
NM_000181.4(GUSB):c.725-4G>A
NM_000181.4(GUSB):c.725-7C>G
NM_000181.4(GUSB):c.725-8dup rs768444459
NM_000181.4(GUSB):c.727C>T (p.Leu243=)
NM_000181.4(GUSB):c.729G>A (p.Leu243=)
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
NM_000181.4(GUSB):c.738C>T (p.Tyr246=)
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
NM_000181.4(GUSB):c.744C>T (p.Ile248=)
NM_000181.4(GUSB):c.74dup (p.Gly26fs)
NM_000181.4(GUSB):c.75C>T (p.Gly25=)
NM_000181.4(GUSB):c.762C>T (p.Asn254=)
NM_000181.4(GUSB):c.765G>T (p.Leu255=) rs2115977392
NM_000181.4(GUSB):c.768C>T (p.Phe256=)
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
NM_000181.4(GUSB):c.781C>G (p.Arg261Gly)
NM_000181.4(GUSB):c.78G>T (p.Gly26=)
NM_000181.4(GUSB):c.792T>C (p.Asp264=)
NM_000181.4(GUSB):c.805G>C (p.Val269Leu) rs755211573
NM_000181.4(GUSB):c.808G>A (p.Val270Met)
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu)
NM_000181.4(GUSB):c.812C>T (p.Ala271Val)
NM_000181.4(GUSB):c.813G>T (p.Ala271=)
NM_000181.4(GUSB):c.828C>T (p.Thr276=)
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
NM_000181.4(GUSB):c.873C>T (p.Tyr291=)
NM_000181.4(GUSB):c.875T>C (p.Leu292Pro)
NM_000181.4(GUSB):c.87C>T (p.Tyr29=)
NM_000181.4(GUSB):c.882C>T (p.His294=) rs766837276
NM_000181.4(GUSB):c.883G>A (p.Glu295Lys)
NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys) rs1271320539
NM_000181.4(GUSB):c.906A>G (p.Ser302=)
NM_000181.4(GUSB):c.907T>C (p.Leu303=)
NM_000181.4(GUSB):c.90C>G (p.Pro30=)
NM_000181.4(GUSB):c.90C>T (p.Pro30=)
NM_000181.4(GUSB):c.912+15G>C
NM_000181.4(GUSB):c.912+18C>G
NM_000181.4(GUSB):c.912+19A>G
NM_000181.4(GUSB):c.913-16G>A rs2115962921
NM_000181.4(GUSB):c.913-17T>C
NM_000181.4(GUSB):c.913-18G>C
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
NM_000181.4(GUSB):c.927A>C (p.Ala309=)
NM_000181.4(GUSB):c.932dup (p.Ser312fs)
NM_000181.4(GUSB):c.937C>T (p.Leu313=)
NM_000181.4(GUSB):c.93G>A (p.Gln31=)
NM_000181.4(GUSB):c.942G>A (p.Gly314=)
NM_000181.4(GUSB):c.945T>C (p.Pro315=)
NM_000181.4(GUSB):c.948G>A (p.Val316=)
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly)
NM_000181.4(GUSB):c.954C>T (p.Asp318=)
NM_000181.4(GUSB):c.960C>T (p.Tyr320=)
NM_000181.4(GUSB):c.963A>T (p.Thr321=)
NM_000181.4(GUSB):c.966C>A (p.Leu322=)
NM_000181.4(GUSB):c.970G>A (p.Val324Met)
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys)
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000181.4(GUSB):c.99C>T (p.Ser33=)
NM_000181.4(GUSB):c.9G>T (p.Arg3=)

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.