ClinVar Miner

List of variants in gene USP8 studied for Hereditary spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005154.5(USP8):c.104+16C>T rs11632708 0.15030
NM_005154.5(USP8):c.2215A>G (p.Thr739Ala) rs11638390 0.13627
NM_005154.5(USP8):c.1857T>C (p.Phe619=) rs10220843 0.09465
NM_005154.5(USP8):c.1328A>G (p.Asp443Gly) rs3743044 0.02971
NM_005154.5(USP8):c.1042G>A (p.Ala348Thr) rs61733869 0.02605
NM_005154.5(USP8):c.802T>A (p.Leu268Ile) rs61751062 0.01657
NM_005154.5(USP8):c.400C>T (p.Leu134=) rs114541731 0.01271
NM_005154.5(USP8):c.1296A>G (p.Gln432=) rs3131561 0.00791
NM_005154.5(USP8):c.1448G>A (p.Arg483Gln) rs115970610 0.00426
NM_005154.5(USP8):c.1162A>G (p.Lys388Glu) rs150568948 0.00404
NM_005154.5(USP8):c.1516A>C (p.Lys506Gln) rs113169913 0.00368
NM_005154.5(USP8):c.583A>G (p.Lys195Glu) rs147742292 0.00202
NM_005154.5(USP8):c.634G>A (p.Asp212Asn) rs150245386 0.00150
NM_005154.5(USP8):c.1464G>A (p.Glu488=) rs142653887 0.00077
NM_005154.5(USP8):c.659G>A (p.Ser220Asn) rs140695550 0.00052
NM_005154.5(USP8):c.1052C>T (p.Thr351Met) rs561403213 0.00045
NM_005154.5(USP8):c.1675C>T (p.His559Tyr) rs192977674 0.00044
NM_005154.5(USP8):c.250-15T>C rs369842951 0.00043
NM_005154.5(USP8):c.965G>A (p.Arg322Gln) rs148200969 0.00038
NM_005154.5(USP8):c.1434A>G (p.Gln478=) rs754921595 0.00031
NM_005154.5(USP8):c.104+20A>G rs373171982 0.00028
NM_005154.5(USP8):c.1365C>T (p.Leu455=) rs139912757 0.00028
NM_005154.5(USP8):c.250-8A>C rs199586071 0.00017
NM_005154.5(USP8):c.1148C>T (p.Pro383Leu) rs755896571 0.00016
NM_005154.5(USP8):c.1872C>T (p.Asp624=) rs375855680 0.00013
NM_005154.5(USP8):c.541+9G>A rs141310097 0.00012
NM_005154.5(USP8):c.1022A>G (p.Glu341Gly) rs202174816 0.00011
NM_005154.5(USP8):c.1891-17T>A rs1361632003 0.00011
NM_005154.5(USP8):c.762G>A (p.Glu254=) rs370876235 0.00011
NM_005154.5(USP8):c.1922G>A (p.Ser641Asn) rs372108112 0.00009
NM_005154.5(USP8):c.886G>A (p.Val296Ile) rs138148339 0.00009
NM_005154.5(USP8):c.2297A>G (p.Asn766Ser) rs144130206 0.00007
NM_005154.5(USP8):c.397C>T (p.Arg133Trp) rs202135045 0.00007
NM_005154.5(USP8):c.542-19T>C rs574797475 0.00007
NM_005154.5(USP8):c.1299A>G (p.Gln433=) rs373025012 0.00006
NM_005154.5(USP8):c.2331T>C (p.Thr777=) rs187703744 0.00006
NM_005154.5(USP8):c.36C>T (p.Tyr12=) rs141886945 0.00005
NM_005154.5(USP8):c.564A>G (p.Leu188=) rs534878262 0.00005
NM_005154.5(USP8):c.1878C>T (p.Thr626=) rs370716283 0.00004
NM_005154.5(USP8):c.2246A>G (p.Tyr749Cys) rs898810598 0.00004
NM_005154.5(USP8):c.2287C>T (p.Arg763Trp) rs78143971 0.00004
NM_005154.5(USP8):c.2292C>A (p.Asn764Lys) rs74840283 0.00004
NM_005154.5(USP8):c.2391C>T (p.Asn797=) rs199814360 0.00004
NM_005154.5(USP8):c.494A>T (p.Gln165Leu) rs774290227 0.00004
NM_005154.5(USP8):c.104+17G>A rs369552458 0.00003
NM_005154.5(USP8):c.2320C>G (p.Pro774Ala) rs371064052 0.00003
NM_005154.5(USP8):c.479C>G (p.Ser160Cys) rs747842448 0.00003
NM_005154.5(USP8):c.775C>A (p.Leu259Ile) rs772655890 0.00003
NM_005154.5(USP8):c.1084A>G (p.Ile362Val) rs768800460 0.00002
NM_005154.5(USP8):c.1213C>T (p.Pro405Ser) rs776747250 0.00002
NM_005154.5(USP8):c.254A>C (p.Tyr85Ser) rs1322588568 0.00002
NM_005154.5(USP8):c.335+7A>G rs761711198 0.00002
NM_005154.5(USP8):c.515A>G (p.Asn172Ser) rs147121994 0.00002
NM_005154.5(USP8):c.104+5G>C rs1186593531 0.00001
NM_005154.5(USP8):c.1090T>C (p.Leu364=) rs750843415 0.00001
NM_005154.5(USP8):c.1120C>A (p.Pro374Thr) rs1359249352 0.00001
NM_005154.5(USP8):c.1129A>G (p.Ile377Val) rs373704916 0.00001
NM_005154.5(USP8):c.1310G>A (p.Ser437Asn) rs775130274 0.00001
NM_005154.5(USP8):c.1460A>G (p.Gln487Arg) rs761395751 0.00001
NM_005154.5(USP8):c.1540A>G (p.Ile514Val) rs746289412 0.00001
NM_005154.5(USP8):c.1573A>T (p.Met525Leu) rs2051784256 0.00001
NM_005154.5(USP8):c.1597G>A (p.Ala533Thr) rs768167279 0.00001
NM_005154.5(USP8):c.1726C>T (p.Pro576Ser) rs755591528 0.00001
NM_005154.5(USP8):c.1840C>T (p.Leu614=) rs745444234 0.00001
NM_005154.5(USP8):c.1873G>A (p.Asp625Asn) rs768514589 0.00001
NM_005154.5(USP8):c.1896A>G (p.Gln632=) rs754311670 0.00001
NM_005154.5(USP8):c.1925A>C (p.Glu642Ala) rs2141316371 0.00001
NM_005154.5(USP8):c.1947A>G (p.Pro649=) rs777660185 0.00001
NM_005154.5(USP8):c.2108C>A (p.Pro703His) rs766783893 0.00001
NM_005154.5(USP8):c.2121T>C (p.Asp707=) rs767210381 0.00001
NM_005154.5(USP8):c.2235-20G>T rs937066808 0.00001
NM_005154.5(USP8):c.2235-9C>T rs374691987 0.00001
NM_005154.5(USP8):c.2291A>G (p.Asn764Ser) rs1318445105 0.00001
NM_005154.5(USP8):c.268C>T (p.Leu90Phe) rs779520263 0.00001
NM_005154.5(USP8):c.499-13T>C rs79605999 0.00001
NM_005154.5(USP8):c.530C>G (p.Thr177Ser) rs748219940 0.00001
NM_005154.5(USP8):c.823C>T (p.Arg275Trp) rs752682936 0.00001
NM_005154.5(USP8):c.865G>A (p.Val289Ile) rs143070181 0.00001
NC_000015.9:g.(?_50731261)_(50791295_?)dup
NM_005154.5(USP8):c.1050G>T (p.Gln350His) rs2051600642
NM_005154.5(USP8):c.1053G>A (p.Thr351=) rs1196856326
NM_005154.5(USP8):c.1148C>A (p.Pro383Gln) rs755896571
NM_005154.5(USP8):c.1151T>A (p.Val384Asp) rs2541955105
NM_005154.5(USP8):c.1218+17A>T rs1242509950
NM_005154.5(USP8):c.1219-20C>G rs1459873852
NM_005154.5(USP8):c.1296= (p.Gln432=)
NM_005154.5(USP8):c.1301CTC[1] (p.Pro435del)
NM_005154.5(USP8):c.1330C>T (p.Arg444Cys) rs148244041
NM_005154.5(USP8):c.1531G>C (p.Glu511Gln) rs778969876
NM_005154.5(USP8):c.1553A>C (p.Gln518Pro) rs2141304804
NM_005154.5(USP8):c.1620C>T (p.Thr540=) rs2541964501
NM_005154.5(USP8):c.1637A>G (p.Lys546Arg)
NM_005154.5(USP8):c.1674A>T (p.Glu558Asp) rs1288098442
NM_005154.5(USP8):c.1692C>G (p.Ala564=) rs2141304977
NM_005154.5(USP8):c.1773A>C (p.Thr591=) rs370736010
NM_005154.5(USP8):c.1775C>T (p.Ser592Phe) rs1039670134
NM_005154.5(USP8):c.1793G>T (p.Gly598Val)
NM_005154.5(USP8):c.1859G>A (p.Arg620Lys) rs2051877801
NM_005154.5(USP8):c.1972-20T>G rs2541983300
NM_005154.5(USP8):c.2307T>C (p.Phe769=) rs2141320965
NM_005154.5(USP8):c.2320C>T (p.Pro774Ser)
NM_005154.5(USP8):c.2383C>T (p.Leu795=) rs1595985288
NM_005154.5(USP8):c.2443A>G (p.Asn815Asp) rs1555392171
NM_005154.5(USP8):c.249+21_249+23del rs776173241
NM_005154.5(USP8):c.286A>C (p.Lys96Gln)
NM_005154.5(USP8):c.297C>A (p.Val99=) rs183341645
NM_005154.5(USP8):c.297C>T (p.Val99=) rs183341645
NM_005154.5(USP8):c.317C>G (p.Ser106Cys) rs2141265920
NM_005154.5(USP8):c.335+4C>G rs373460543
NM_005154.5(USP8):c.407A>C (p.Gln136Pro)
NM_005154.5(USP8):c.513G>C (p.Lys171Asn) rs572018148
NM_005154.5(USP8):c.578C>T (p.Thr193Met) rs368365577
NM_005154.5(USP8):c.587A>C (p.Asn196Thr) rs937524145
NM_005154.5(USP8):c.802T>G (p.Leu268Val) rs61751062
NM_005154.5(USP8):c.808A>G (p.Ile270Val) rs1052363268
NM_005154.5(USP8):c.824G>A (p.Arg275Gln) rs376852674
NM_005154.5(USP8):c.930G>T (p.Gln310His)
NM_005154.5(USP8):c.952_955dup (p.Pro319fs) rs2541953729
NM_005154.5(USP8):c.988A>G (p.Ile330Val)

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.