ClinVar Miner

List of variants in gene SPG7 reported as pathogenic

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Gene type:
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Total variants: 125
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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.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.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) rs752989523 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.(?_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.(?_89574826)_(89579465_?)del
NC_000016.9:g.(?_89574826)_(89597236_?)del
NC_000016.9:g.(?_89576878)_(89579465_?)del
NC_000016.9:g.(?_89576878)_(89579465_?)dup
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.(?_89619467)_(89620817_?)del
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
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.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.1450-446_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.1861C>T (p.Gln621Ter) rs769258044
NM_003119.4(SPG7):c.1867_1870del (p.Phe623fs) rs2058651832
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.1990_1992del (p.Gln664del) rs1597665063
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg) rs752989523
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.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.2189del (p.Asn730fs) rs863224223
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.347C>A (p.Ser116Ter) rs149474131
NM_003119.4(SPG7):c.416_432del (p.Arg139fs) rs1085307874
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.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.861del (p.Phe287fs) rs797046003
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.934dup (p.Ala312fs) rs2058330715
NM_003119.4(SPG7):c.960del (p.Val321fs)
NM_003119.4(SPG7):c.976_987+3del rs878854606

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