ClinVar Miner

List of variants in gene SPG7 reported as uncertain significance for Hereditary spastic paraplegia 7

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Gene type:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_003119.4(SPG7):c.*398G>A rs148314733 0.00483
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_003119.4(SPG7):c.*432G>A rs545177317 0.00158
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00073
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471 0.00066
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00024
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138 0.00017
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) rs370949294 0.00014
NM_003119.4(SPG7):c.*24C>T rs367714018 0.00011
NM_003119.4(SPG7):c.*483A>G rs548134361 0.00011
NM_003119.4(SPG7):c.2274C>T (p.Ile758=) rs147302322 0.00011
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp) rs199751531 0.00010
NM_003119.4(SPG7):c.1971C>T (p.Ile657=) rs140356355 0.00009
NM_003119.4(SPG7):c.454A>G (p.Met152Val) rs146186857 0.00009
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) rs145776296 0.00009
NM_003119.4(SPG7):c.1049C>A (p.Pro350His) rs376254211 0.00008
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile) rs115999025 0.00008
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248 0.00008
NM_003119.4(SPG7):c.306C>T (p.Asn102=) rs147397994 0.00007
NM_003119.4(SPG7):c.1236G>A (p.Ala412=) rs201129878 0.00006
NM_003119.4(SPG7):c.1325-6C>T rs371986686 0.00006
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr) rs763187694 0.00006
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) rs1239421989 0.00006
NM_003119.4(SPG7):c.*11T>A rs201811837 0.00004
NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr) rs368373840 0.00004
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln) rs778409451 0.00004
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) rs748024868 0.00004
NM_003119.4(SPG7):c.1266C>T (p.Ser422=) rs767857665 0.00004
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln) rs757160836 0.00004
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile) rs750306995 0.00004
NM_003119.4(SPG7):c.1752G>C (p.Met584Ile) rs753337774 0.00004
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr) rs370852816 0.00004
NM_003119.4(SPG7):c.184-4T>C rs533778042 0.00004
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys) rs536084933 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003119.4(SPG7):c.2370G>A (p.Glu790=) rs936520999 0.00004
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn) rs762049799 0.00004
NM_003119.4(SPG7):c.578A>G (p.Glu193Gly) rs114191002 0.00004
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772 0.00004
NM_003119.4(SPG7):c.988-3C>T rs533584901 0.00004
NM_003119.4(SPG7):c.1324+4273G>T rs142373545 0.00003
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr) rs747521455 0.00003
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn) rs765532928 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003119.4(SPG7):c.663G>A (p.Lys221=) rs575421836 0.00003
NM_003119.4(SPG7):c.734A>G (p.Tyr245Cys) rs771172268 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr) rs776587961 0.00002
NM_003119.4(SPG7):c.1596G>A (p.Ala532=) rs752346853 0.00002
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys) rs577389704 0.00002
NM_003119.4(SPG7):c.1775T>G (p.Met592Arg) rs781314016 0.00002
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp) rs764645740 0.00002
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn) rs143294686 0.00002
NM_003119.4(SPG7):c.2283G>A (p.Gln761=) rs116035086 0.00002
NM_003119.4(SPG7):c.359C>T (p.Ala120Val) rs530877336 0.00002
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132 0.00002
NM_003119.4(SPG7):c.517G>A (p.Glu173Lys) rs577497147 0.00002
NM_003119.4(SPG7):c.619-7C>A rs779835775 0.00002
NM_003119.4(SPG7):c.*341A>G rs772338990 0.00001
NM_003119.4(SPG7):c.*97G>A rs886052475 0.00001
NM_003119.4(SPG7):c.*99G>A rs953663004 0.00001
NM_003119.4(SPG7):c.1018A>G (p.Lys340Glu) rs375684876 0.00001
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala) rs1567914095 0.00001
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met) rs754903980 0.00001
NM_003119.4(SPG7):c.1073T>C (p.Leu358Pro) rs997293950 0.00001
NM_003119.4(SPG7):c.1079A>G (p.Lys360Arg) rs376803235 0.00001
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val) rs776176403 0.00001
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn) rs745459731 0.00001
NM_003119.4(SPG7):c.1199G>A (p.Arg400Gln) rs541757224 0.00001
NM_003119.4(SPG7):c.1234G>A (p.Ala412Thr) rs779792728 0.00001
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val) rs746668495 0.00001
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile) rs371504521 0.00001
NM_003119.4(SPG7):c.1295C>T (p.Thr432Met) rs781129301 0.00001
NM_003119.4(SPG7):c.1378A>G (p.Ile460Val) rs748873540 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1523G>A (p.Arg508His) rs201733920 0.00001
NM_003119.4(SPG7):c.1664-11C>A rs574656941 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1929C>A (p.Val643=) rs746082965 0.00001
NM_003119.4(SPG7):c.1959G>T (p.Lys653Asn) rs775569150 0.00001
NM_003119.4(SPG7):c.1967G>A (p.Arg656His) rs373143136 0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) rs2058661391 0.00001
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333 0.00001
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn) rs776661222 0.00001
NM_003119.4(SPG7):c.2181G>A (p.Ala727=) rs753423781 0.00001
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val) rs1433673841 0.00001
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly) rs759329959 0.00001
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn) rs374941242 0.00001
NM_003119.4(SPG7):c.2323G>A (p.Glu775Lys) rs1293899912 0.00001
NM_003119.4(SPG7):c.2373G>A (p.Pro791=) rs768453376 0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) rs774326531 0.00001
NM_003119.4(SPG7):c.392G>A (p.Arg131His) rs985921704 0.00001
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln) rs948625936 0.00001
NM_003119.4(SPG7):c.529A>G (p.Lys177Glu) rs1244544459 0.00001
NM_003119.4(SPG7):c.618+14C>T rs574361328 0.00001
NM_003119.4(SPG7):c.682G>A (p.Ala228Thr) rs375721189 0.00001
NM_003119.4(SPG7):c.703A>G (p.Ile235Val) rs191022979 0.00001
NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe) rs773926412 0.00001
NM_003119.4(SPG7):c.817C>T (p.Arg273Cys) rs748547018 0.00001
NM_003119.4(SPG7):c.861+5G>A rs757333854 0.00001
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg) rs771060044 0.00001
NC_000016.10:g.(?_89508408)_(89532646_?)dup
NC_000016.9:g.(?_89574826)_(89583809_?)dup
NC_000016.9:g.(?_89579336)_(89579465_?)del
NM_003119.4(SPG7):c.*222G>A rs2058697421
NM_003119.4(SPG7):c.1012G>T (p.Gly338Cys)
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala) rs199789849
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser) rs199789849
NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)
NM_003119.4(SPG7):c.1085T>A (p.Val362Glu) rs532511374
NM_003119.4(SPG7):c.1085T>G (p.Val362Gly)
NM_003119.4(SPG7):c.1102del (p.Val368fs) rs1567914229
NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)
NM_003119.4(SPG7):c.1135G>A (p.Val379Met) rs766085257
NM_003119.4(SPG7):c.1149A>T (p.Gly383=) rs2058351028
NM_003119.4(SPG7):c.1150+17G>A rs2058351380
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln) rs771782004
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu) rs771782004
NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)
NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1238T>A (p.Val413Glu) rs1244749062
NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)
NM_003119.4(SPG7):c.1249C>T (p.Arg417Cys)
NM_003119.4(SPG7):c.1257C>G (p.Thr419=) rs766401031
NM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)
NM_003119.4(SPG7):c.1324+7G>A
NM_003119.4(SPG7):c.1354C>T (p.Leu452=) rs2058540705
NM_003119.4(SPG7):c.1358C>T (p.Ala453Val)
NM_003119.4(SPG7):c.1361C>T (p.Ser454Phe)
NM_003119.4(SPG7):c.1363A>C (p.Thr455Pro) rs2152409117
NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)
NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)
NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr) rs1567926386
NM_003119.4(SPG7):c.1421A>C (p.His474Pro)
NM_003119.4(SPG7):c.1422C>G (p.His474Gln) rs201482100
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_003119.4(SPG7):c.1449+6_1449+7del
NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)
NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)
NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg) rs972175989
NM_003119.4(SPG7):c.1552+4C>T
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro) rs1423182372
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr) rs540602203
NM_003119.4(SPG7):c.1568A>T (p.Asn523Ile) rs974972989
NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)
NM_003119.4(SPG7):c.1595C>T (p.Ala532Val)
NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)
NM_003119.4(SPG7):c.1622A>G (p.His541Arg)
NM_003119.4(SPG7):c.1639T>G (p.Tyr547Asp) rs886052474
NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)
NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)
NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)
NM_003119.4(SPG7):c.1686C>G (p.Ile562Met)
NM_003119.4(SPG7):c.1699G>C (p.Glu567Gln)
NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)
NM_003119.4(SPG7):c.1705A>C (p.Lys569Gln)
NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)
NM_003119.4(SPG7):c.1712T>C (p.Val571Ala) rs2152411078
NM_003119.4(SPG7):c.1720C>T (p.His574Tyr) rs2058623878
NM_003119.4(SPG7):c.1740G>T (p.Leu580Phe) rs115658934
NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln) rs1035143808
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)
NM_003119.4(SPG7):c.1779+5G>T rs1567931957
NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu) rs149749852
NM_003119.4(SPG7):c.1797G>T (p.Arg599=)
NM_003119.4(SPG7):c.1844A>G (p.His615Arg) rs2152411864
NM_003119.4(SPG7):c.184A>C (p.Ser62Arg)
NM_003119.4(SPG7):c.1858G>C (p.Glu620Gln)
NM_003119.4(SPG7):c.1873C>T (p.Arg625Trp)
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp) rs1350253332
NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)
NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
NM_003119.4(SPG7):c.1927G>A (p.Val643Ile) rs778965259
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) rs373143136
NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)
NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)
NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr) rs2152412186
NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser) rs2058661946
NM_003119.4(SPG7):c.2059G>A (p.Gly687Arg)
NM_003119.4(SPG7):c.2059_2076del (p.Gly687_Ser692del) rs1597665192
NM_003119.4(SPG7):c.2066G>A (p.Arg689His) rs148199060
NM_003119.4(SPG7):c.2083C>T (p.Leu695=) rs754203248
NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)
NM_003119.4(SPG7):c.2102A>G (p.His701Arg) rs372180825
NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)
NM_003119.4(SPG7):c.2128G>A (p.Ala710Thr) rs2152412371
NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp) rs2058667749
NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)
NM_003119.4(SPG7):c.2149G>A (p.Val717Met)
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)
NM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
NM_003119.4(SPG7):c.2241T>G (p.Ile747Met) rs2152413170
NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)
NM_003119.4(SPG7):c.2252C>A (p.Pro751His)
NM_003119.4(SPG7):c.2272A>G (p.Ile758Val) rs1597668767
NM_003119.4(SPG7):c.2279C>T (p.Pro760Leu)
NM_003119.4(SPG7):c.2281C>T (p.Gln761Ter)
NM_003119.4(SPG7):c.2290A>G (p.Ile764Val) rs942740771
NM_003119.4(SPG7):c.2296G>A (p.Ala766Thr)
NM_003119.4(SPG7):c.2316C>G (p.Asp772Glu)
NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) rs527363502
NM_003119.4(SPG7):c.2350C>T (p.Pro784Ser)
NM_003119.4(SPG7):c.2365G>A (p.Glu789Lys) rs372033226
NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter) rs372033226
NM_003119.4(SPG7):c.2372C>G (p.Pro791Arg)
NM_003119.4(SPG7):c.2387A>G (p.Ter796Trp)
NM_003119.4(SPG7):c.248A>G (p.His83Arg)
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
NM_003119.4(SPG7):c.286+3A>G rs201056405
NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)
NM_003119.4(SPG7):c.308C>A (p.Thr103Asn) rs746764772
NM_003119.4(SPG7):c.347C>G (p.Ser116Trp)
NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)
NM_003119.4(SPG7):c.355A>C (p.Lys119Gln)
NM_003119.4(SPG7):c.375A>C (p.Glu125Asp)
NM_003119.4(SPG7):c.377-39A>C rs1192753029
NM_003119.4(SPG7):c.389G>A (p.Arg130His)
NM_003119.4(SPG7):c.395A>C (p.Glu132Ala)
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) rs377268309
NM_003119.4(SPG7):c.439G>A (p.Val147Ile)
NM_003119.4(SPG7):c.463C>A (p.Leu155Met)
NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)
NM_003119.4(SPG7):c.495T>G (p.Ile165Met)
NM_003119.4(SPG7):c.535G>C (p.Glu179Gln)
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
NM_003119.4(SPG7):c.560C>T (p.Pro187Leu) rs2152399546
NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)
NM_003119.4(SPG7):c.618+14_618+36del
NM_003119.4(SPG7):c.619-3C>G rs199740629
NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)
NM_003119.4(SPG7):c.696G>T (p.Glu232Asp)
NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
NM_003119.4(SPG7):c.746G>A (p.Gly249Glu)
NM_003119.4(SPG7):c.758+4T>C rs2058261955
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003119.4(SPG7):c.759-11del
NM_003119.4(SPG7):c.759-15T>G
NM_003119.4(SPG7):c.759-5G>A
NM_003119.4(SPG7):c.763C>T (p.Leu255=) rs2058311848
NM_003119.4(SPG7):c.764T>A (p.Leu255Gln) rs2058311875
NM_003119.4(SPG7):c.784G>C (p.Ala262Pro) rs2152402052
NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)
NM_003119.4(SPG7):c.829A>T (p.Met277Leu) rs909738481
NM_003119.4(SPG7):c.847G>A (p.Gly283Arg) rs2058313221
NM_003119.4(SPG7):c.861+6T>C rs765178985
NM_003119.4(SPG7):c.861T>C (p.Phe287=)
NM_003119.4(SPG7):c.872A>G (p.Lys291Arg)
NM_003119.4(SPG7):c.931G>A (p.Val311Met)
NM_003119.4(SPG7):c.942G>C (p.Met314Ile)
NM_003119.4(SPG7):c.943C>T (p.His315Tyr)
NM_003119.4(SPG7):c.946G>A (p.Glu316Lys)
NM_003119.4(SPG7):c.947A>G (p.Glu316Gly)
NM_003119.4(SPG7):c.950C>T (p.Ala317Val)
NM_003119.4(SPG7):c.964C>T (p.Arg322Cys) rs201096554
NM_003119.4(SPG7):c.967G>A (p.Glu323Lys)
NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro) rs1555612612
NM_003119.4(SPG7):c.987+5A>C rs4785691
NM_003119.4(SPG7):c.988-17T>C

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