ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 7 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.14:g.(?_65960877)_(65982203_?)dup
NC_000007.14:g.(?_65960877)_(66092932_?)del
NC_000007.14:g.(?_65967711)_(65970386_?)del
NC_000007.14:g.(?_65970262)_(65970386_?)del
NC_000007.14:g.(?_65974275)_(65982203_?)del
NM_000181.4(GUSB):c.-12G>A rs2279903
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.105G>C (p.Ser35=)
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.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.1238C>T (p.Ala413Val)
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
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.1359G>A (p.Ala453=) rs118066970
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.147C>T (p.Ala49=)
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
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.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.1790-2dup
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.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.1880G>A (p.Trp627Ter)
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
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.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.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.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.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.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.918G>T (p.Gln306His) rs375828604
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652

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.