ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 142
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) rs369503365 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.1553-2A>G rs1229749476 0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852 0.00002
NM_003119.4(SPG7):c.1937-2A>G rs568556987 0.00002
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer) rs763413730 0.00002
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904 0.00001
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) rs748555510 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter) rs1482442290 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter) rs946925151 0.00001
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) rs72547552 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) rs752989523 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp) rs1249957920 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797 0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 0.00001
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003119.4(SPG7):c.775_781dup (p.Thr261fs) rs780810116 0.00001
NM_003119.4(SPG7):c.861+1G>C rs1412575396 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NC_000016.10:g.(89559945_?)_(?_89549777)del
NC_000016.10:g.(?_89508408)_(89508610_?)del
NC_000016.10:g.(?_89510480)_(89513047_?)del
NC_000016.10:g.(?_89529457)_(89529599_?)del
NC_000016.9:g.(89579446_89590413)_(89611181_89613065)del
NC_000016.9:g.(89592877_89595884)_(89599045_89611055)del
NC_000016.9:g.(89595988_89597090)_(89620972_89623294)del
NC_000016.9:g.(?_89556653)_(89623501_?)del
NC_000016.9:g.(?_89574826)_(89575028_?)del
NC_000016.9:g.(?_89574826)_(89577020_?)del
NC_000016.9:g.(?_89574826)_(89579465_?)del
NC_000016.9:g.(?_89574826)_(89597236_?)del
NC_000016.9:g.(?_89576878)_(89577020_?)del
NC_000016.9:g.(?_89576878)_(89579465_?)del
NC_000016.9:g.(?_89576878)_(89579465_?)dup
NC_000016.9:g.(?_89590394)_(89599064_?)del
NC_000016.9:g.(?_89595875)_(89595997_?)del
NC_000016.9:g.(?_89613046)_(89617037_?)del
NC_000016.9:g.(?_89614405)_(89617023_?)del
NC_000016.9:g.(?_89619367)_(89619563_?)del
NC_000016.9:g.(?_89619467)_(89620817_?)del
NM_003119.3(SPG7):c.1553-?_1779+?del
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs) rs1060503425
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053del (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro) rs1031614168
NM_003119.4(SPG7):c.1124del (p.Gly375fs) rs2152403519
NM_003119.4(SPG7):c.1151-1G>C
NM_003119.4(SPG7):c.1162_1177dup (p.Leu393fs) rs2152403759
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1170del (p.Arg391fs)
NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs) rs2058358025
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter) rs2058358241
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1303C>T (p.Gln435Ter)
NM_003119.4(SPG7):c.1324+2T>G rs1597635592
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1450-446_1779+746delinsAAAGTGCT
NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter) rs1179556029
NM_003119.4(SPG7):c.1477dup (p.Leu493fs)
NM_003119.4(SPG7):c.1528_1529delinsTT (p.Ala510Leu) rs2152409901
NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro) rs2058569546
NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter) rs2152410293
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1628_1629del (p.Leu543fs) rs766155407
NM_003119.4(SPG7):c.1702_1706del (p.Gln568fs) rs2152411067
NM_003119.4(SPG7):c.1704_1705del (p.Lys569fs) rs2152411070
NM_003119.4(SPG7):c.1739TGG[1] (p.Val581del) rs1597661607
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter) rs1463225651
NM_003119.4(SPG7):c.183+1_184-1del
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter) rs769258044
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1939del rs1567934181
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu) rs776380988
NM_003119.4(SPG7):c.1960_1963del (p.Val654fs) rs2152412161
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) rs373143136
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg) rs752989523
NM_003119.4(SPG7):c.1A>C (p.Met1Leu)
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) rs121918357
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
NM_003119.4(SPG7):c.2104-2A>G rs1567934754
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.2140_2141del (p.Thr714fs)
NM_003119.4(SPG7):c.2166_2167insCAACAACCTG (p.Asp723fs) rs2058667949
NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) rs763126378
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter) rs146115797
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
NM_003119.4(SPG7):c.286+853A>G
NM_003119.4(SPG7):c.2T>A (p.Met1Lys) rs1332265538
NM_003119.4(SPG7):c.2T>G (p.Met1Arg)
NM_003119.4(SPG7):c.39_63del (p.Gly14fs) rs2152392855
NM_003119.4(SPG7):c.473_474del (p.Leu158fs) rs879253798
NM_003119.4(SPG7):c.596del (p.Gly199fs) rs752843742
NM_003119.4(SPG7):c.711del (p.Lys238fs) rs2152400490
NM_003119.4(SPG7):c.712A>T (p.Lys238Ter) rs2152400493
NM_003119.4(SPG7):c.73_80del (p.Pro25fs) rs2152392876
NM_003119.4(SPG7):c.749del (p.Phe250fs) rs1355240257
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.778_782delinsCCA (p.Met260fs) rs2152402048
NM_003119.4(SPG7):c.808del (p.Tyr270fs)
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs) rs768595656
NM_003119.4(SPG7):c.861+1G>T rs1412575396
NM_003119.4(SPG7):c.861+6T>C rs765178985
NM_003119.4(SPG7):c.861del (p.Phe287fs) rs797046003
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.86G>A (p.Trp29Ter) rs1314660313
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) rs1597597437
NM_003119.4(SPG7):c.934dup (p.Ala312fs) rs2058330715
NM_003119.4(SPG7):c.960del (p.Val321fs)
NM_003119.4:c.[1049_1077del];[1045G>A]
Single allele

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.