ClinVar Miner

List of variants in gene GUSB studied for Mucopolysaccharidosis type 7

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP
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
NM_000181.3(GUSB):c.-50C>T rs201504866
NM_000181.3(GUSB):c.-72G>T rs2279904
NM_000181.4(GUSB):c.*12A>G
NM_000181.4(GUSB):c.*148A>G
NM_000181.4(GUSB):c.*154G>A
NM_000181.4(GUSB):c.*172A>G
NM_000181.4(GUSB):c.*208T>C rs190201470
NM_000181.4(GUSB):c.*208T>G
NM_000181.4(GUSB):c.*55C>T rs372605666
NM_000181.4(GUSB):c.*94A>G
NM_000181.4(GUSB):c.-10A>T
NM_000181.4(GUSB):c.-12G>A rs2279903
NM_000181.4(GUSB):c.-19G>C rs771999951
NM_000181.4(GUSB):c.-20C>T rs577269089
NM_000181.4(GUSB):c.1020G>A (p.Gly340=) rs372851133
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) rs121918182
NM_000181.4(GUSB):c.105G>C (p.Ser35=)
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)
NM_000181.4(GUSB):c.1066-5C>T rs376501876
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) rs1264172545
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000181.4(GUSB):c.1193G>A (p.Arg398His) rs776843811
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
NM_000181.4(GUSB):c.1244+1G>A
NM_000181.4(GUSB):c.1245-15C>T rs62470935
NM_000181.4(GUSB):c.1245-4G>A
NM_000181.4(GUSB):c.1245-4G>T
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter) rs121918180
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970
NM_000181.4(GUSB):c.1391+618_1391+619del rs786200863
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr) rs752854143
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
NM_000181.4(GUSB):c.147C>T (p.Ala49=)
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys) rs121918178
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) rs121918179
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
NM_000181.4(GUSB):c.1653+151A>G rs1880555
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) rs769252159
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) rs121918183
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018
NM_000181.4(GUSB):c.1789+9C>T rs545446158
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1790-2dup
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176
NM_000181.4(GUSB):c.1834del (p.Gln612fs) rs1085307069
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs) rs935464108
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg) rs776024156
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530
NM_000181.4(GUSB):c.210+11G>C rs886062403
NM_000181.4(GUSB):c.211-7T>C
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
NM_000181.4(GUSB):c.347G>A (p.Arg116His)
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) rs121918177
NM_000181.4(GUSB):c.447C>T (p.Phe149=)
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000181.4(GUSB):c.456C>T (p.Asp152=)
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.466C>T (p.Leu156=)
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) rs587779400
NM_000181.4(GUSB):c.531C>A (p.Thr177=)
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
NM_000181.4(GUSB):c.54C>T (p.Gly18=) rs759514074
NM_000181.4(GUSB):c.552G>A (p.Gly184=)
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
NM_000181.4(GUSB):c.669A>T (p.Thr223=) rs201178083
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.684C>T (p.Ile228=)
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104
NM_000181.4(GUSB):c.725-16C>T
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
NM_000181.4(GUSB):c.807C>T (p.Val269=) rs571704452
NM_000181.4(GUSB):c.893C>T (p.Ala298Val) rs1451709678
NM_000181.4(GUSB):c.918G>T (p.Gln306His) rs375828604
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652

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