ClinVar Miner

List of variants in gene SPG7 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 539
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_003119.4(SPG7):c.376+4364C>T rs8052076 0.41223
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_003119.4(SPG7):c.1449+19G>A rs79201073 0.07399
NM_003119.4(SPG7):c.1663+13C>T rs80324518 0.05587
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711 0.02864
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_003119.4(SPG7):c.1770C>T (p.Ala590=) rs60488729 0.01823
NM_003119.4(SPG7):c.2037G>A (p.Ala679=) rs79756036 0.01778
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003119.4(SPG7):c.881G>A (p.Arg294His) rs115661328 0.01169
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_003119.4(SPG7):c.1936+12C>T rs112379588 0.00628
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1779+20G>A rs145805850 0.00345
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
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.1936+13G>A rs147242721 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.1593C>T (p.His531=) rs61747706 0.00047
NM_003119.4(SPG7):c.474C>T (p.Leu158=) rs139742860 0.00038
NM_003119.4(SPG7):c.318G>A (p.Leu106=) rs115601365 0.00031
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) rs146115797 0.00027
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00024
NM_003119.4(SPG7):c.822G>C (p.Leu274=) rs148032495 0.00024
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003119.4(SPG7):c.2181+19G>A rs201539829 0.00019
NM_003119.4(SPG7):c.2182-18T>C rs374106302 0.00019
NM_003119.4(SPG7):c.1764G>A (p.Thr588=) rs373536584 0.00017
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138 0.00017
NM_003119.4(SPG7):c.862-16T>G rs199954282 0.00016
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.782C>T (p.Thr261Met) rs370949294 0.00014
NM_003119.4(SPG7):c.1197C>T (p.Ala399=) rs373627269 0.00012
NM_003119.4(SPG7):c.2250G>A (p.Pro750=) rs144039221 0.00012
NM_003119.4(SPG7):c.2274C>T (p.Ile758=) rs147302322 0.00011
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
NM_003119.4(SPG7):c.1275C>T (p.Ser425=) rs778305316 0.00010
NM_003119.4(SPG7):c.1664-13G>A rs376384545 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.338A>G (p.Lys113Arg) rs771130240 0.00010
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp) rs199751531 0.00010
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln) rs147673636 0.00010
NM_003119.4(SPG7):c.1053C>T (p.Pro351=) rs762689331 0.00009
NM_003119.4(SPG7):c.1324+18C>T rs372803371 0.00009
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.483C>T (p.Ser161=) rs144509309 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.2058C>T (p.Ile686=) rs776262023 0.00008
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248 0.00008
NM_003119.4(SPG7):c.2103+7C>T rs372981678 0.00008
NM_003119.4(SPG7):c.1663+9G>A rs756489401 0.00007
NM_003119.4(SPG7):c.1937-15G>A rs201272528 0.00007
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.1611C>G (p.His537Gln) rs139952725 0.00006
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr) rs763187694 0.00006
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) rs1239421989 0.00006
NM_003119.4(SPG7):c.516C>T (p.His172=) rs141065708 0.00006
NM_003119.4(SPG7):c.1728G>A (p.Ser576=) rs369686424 0.00005
NM_003119.4(SPG7):c.547G>A (p.Val183Ile) rs373636036 0.00005
NM_003119.4(SPG7):c.618+16G>A rs370158052 0.00005
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.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_003119.4(SPG7):c.1553-20G>A rs753649905 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.1663+14G>A rs368500645 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.1812G>A (p.Leu604=) rs114474424 0.00004
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594 0.00004
NM_003119.4(SPG7):c.184-4T>C rs533778042 0.00004
NM_003119.4(SPG7):c.1936+15C>T rs370954971 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys) rs536084933 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.2298C>G (p.Ala766=) rs61756187 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.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.988-3C>T rs533584901 0.00004
NM_003119.4(SPG7):c.1151-8C>T rs200402056 0.00003
NM_003119.4(SPG7):c.1552+16G>T rs746083152 0.00003
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.1626T>A (p.Thr542=) rs781398870 0.00003
NM_003119.4(SPG7):c.1740G>A (p.Leu580=) rs115658934 0.00003
NM_003119.4(SPG7):c.1936+18G>A rs75437341 0.00003
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr) rs747521455 0.00003
NM_003119.4(SPG7):c.2247G>A (p.Pro749=) rs757358666 0.00003
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn) rs765532928 0.00003
NM_003119.4(SPG7):c.619-4C>G rs754935334 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.759-6C>T rs568452581 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.993A>G (p.Pro331=) rs377211352 0.00003
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852 0.00002
NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr) rs776587961 0.00002
NM_003119.4(SPG7):c.1242C>G (p.Gly414=) rs776578314 0.00002
NM_003119.4(SPG7):c.1596G>A (p.Ala532=) rs752346853 0.00002
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys) rs577389704 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.1937-2A>G rs568556987 0.00002
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer) rs763413730 0.00002
NM_003119.4(SPG7):c.228C>T (p.Asn76=) rs369989832 0.00002
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe) rs770487062 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.423G>T (p.Arg141=) rs777943597 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.1005C>T (p.Leu335=) rs1348515048 0.00001
NM_003119.4(SPG7):c.1018A>G (p.Lys340Glu) rs375684876 0.00001
NM_003119.4(SPG7):c.1026A>G (p.Pro342=) rs751449066 0.00001
NM_003119.4(SPG7):c.1050C>T (p.Pro350=) rs1360515266 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.1068G>A (p.Thr356=) rs368612689 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.1080G>A (p.Lys360=) rs1212650663 0.00001
NM_003119.4(SPG7):c.1092G>A (p.Thr364=) rs771190749 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.1191C>G (p.Ala397=) rs1597635045 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.1254C>T (p.Ser418=) rs1056819996 0.00001
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile) rs371504521 0.00001
NM_003119.4(SPG7):c.1281G>A (p.Thr427=) rs369614581 0.00001
NM_003119.4(SPG7):c.1325-8C>G rs752685889 0.00001
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904 0.00001
NM_003119.4(SPG7):c.1378A>G (p.Ile460Val) rs748873540 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.1523G>A (p.Arg508His) rs201733920 0.00001
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) rs145441974 0.00001
NM_003119.4(SPG7):c.1663+11C>T rs778284438 0.00001
NM_003119.4(SPG7):c.1664-11C>A rs574656941 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.1695G>A (p.Lys565=) rs1426006851 0.00001
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter) rs946925151 0.00001
NM_003119.4(SPG7):c.1780-7G>C rs775799537 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.1996G>C (p.Gly666Arg) rs752989523 0.00001
NM_003119.4(SPG7):c.2046C>T (p.Gly682=) rs1394129207 0.00001
NM_003119.4(SPG7):c.204A>G (p.Leu68=) rs566363528 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.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.2182-19C>T rs752601752 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.2253C>T (p.Pro751=) rs1466411495 0.00001
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623 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.287-15C>G rs760006158 0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) rs774326531 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.392G>A (p.Arg131His) rs985921704 0.00001
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln) rs948625936 0.00001
NM_003119.4(SPG7):c.504C>T (p.Asn168=) rs151078862 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.618+8A>G rs768740995 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 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.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003119.4(SPG7):c.759-4G>A rs777052133 0.00001
NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe) rs773926412 0.00001
NM_003119.4(SPG7):c.783G>A (p.Thr261=) rs778798038 0.00001
NM_003119.4(SPG7):c.861+1G>C rs1412575396 0.00001
NM_003119.4(SPG7):c.861+5G>A rs757333854 0.00001
NM_003119.4(SPG7):c.862-15G>A rs1208489603 0.00001
NM_003119.4(SPG7):c.891T>A (p.Ile297=) rs773162353 0.00001
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg) rs771060044 0.00001
NM_003119.4(SPG7):c.930C>T (p.Asp310=) rs779449885 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003119.4(SPG7):c.988-6G>A rs779901380 0.00001
NC_000016.10:g.(?_89508408)_(89532646_?)dup
NC_000016.10:g.(?_89510480)_(89513047_?)del
NC_000016.10:g.(?_89529457)_(89529599_?)del
NC_000016.9:g.(?_89574826)_(89579465_?)del
NC_000016.9:g.(?_89574826)_(89583809_?)dup
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.(?_89579336)_(89579465_?)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.(?_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.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.1044C>T (p.Leu348=)
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs) rs1060503425
NM_003119.4(SPG7):c.1047C>A (p.Gly349=)
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
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.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053C>G (p.Pro351=) rs762689331
NM_003119.4(SPG7):c.1053del (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala) rs2152403446
NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)
NM_003119.4(SPG7):c.1083G>C (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.1085T>A (p.Val362Glu) rs532511374
NM_003119.4(SPG7):c.1085T>G (p.Val362Gly)
NM_003119.4(SPG7):c.1116G>A (p.Ala372=)
NM_003119.4(SPG7):c.1116G>C (p.Ala372=)
NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)
NM_003119.4(SPG7):c.1124del (p.Gly375fs) rs2152403519
NM_003119.4(SPG7):c.1135G>A (p.Val379Met) rs766085257
NM_003119.4(SPG7):c.1150+13G>C
NM_003119.4(SPG7):c.1150+9T>A
NM_003119.4(SPG7):c.1151-14C>G
NM_003119.4(SPG7):c.1151-16C>G
NM_003119.4(SPG7):c.1151-7C>T
NM_003119.4(SPG7):c.1170del (p.Arg391fs)
NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs) rs2058358025
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.1230C>A (p.Ile410=)
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
NM_003119.4(SPG7):c.1266C>G (p.Ser422=) rs767857665
NM_003119.4(SPG7):c.1296G>A (p.Thr432=)
NM_003119.4(SPG7):c.1305G>A (p.Gln435=) rs559906913
NM_003119.4(SPG7):c.1324+11G>A
NM_003119.4(SPG7):c.1324+15G>A
NM_003119.4(SPG7):c.1324+19C>T
NM_003119.4(SPG7):c.1324+20G>A
NM_003119.4(SPG7):c.1324+2T>G rs1597635592
NM_003119.4(SPG7):c.1324+7G>A
NM_003119.4(SPG7):c.1325-12_1325-11del
NM_003119.4(SPG7):c.1350C>T (p.Ile450=) rs145124867
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.1365G>A (p.Thr455=)
NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)
NM_003119.4(SPG7):c.1393C>T (p.Leu465=)
NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)
NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)
NM_003119.4(SPG7):c.1419G>T (p.Arg473=) rs764199066
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.1440C>A (p.Pro480=)
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_003119.4(SPG7):c.1443G>A (p.Thr481=)
NM_003119.4(SPG7):c.1449+6_1449+7del
NM_003119.4(SPG7):c.1450-17T>C
NM_003119.4(SPG7):c.1455G>A (p.Arg485=)
NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)
NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)
NM_003119.4(SPG7):c.1477dup (p.Leu493fs)
NM_003119.4(SPG7):c.1486C>T (p.Leu496=)
NM_003119.4(SPG7):c.1497C>A (p.Thr499=)
NM_003119.4(SPG7):c.1552+15C>T
NM_003119.4(SPG7):c.1552+4C>T
NM_003119.4(SPG7):c.1552+4_1552+11dup
NM_003119.4(SPG7):c.1553-4A>G rs113450752
NM_003119.4(SPG7):c.1553-4A>T
NM_003119.4(SPG7):c.1553-5G>C rs1463414333
NM_003119.4(SPG7):c.1553-8_1553-7del rs567981282
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro) rs1423182372
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
NM_003119.4(SPG7):c.1568A>T (p.Asn523Ile) rs974972989
NM_003119.4(SPG7):c.1584T>C (p.Ala528=)
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.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1622A>G (p.His541Arg)
NM_003119.4(SPG7):c.1628_1629del (p.Leu543fs) rs766155407
NM_003119.4(SPG7):c.1641C>T (p.Tyr547=)
NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)
NM_003119.4(SPG7):c.1647G>A (p.Val549=) rs2152410319
NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)
NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)
NM_003119.4(SPG7):c.1663+12G>A
NM_003119.4(SPG7):c.1664-17C>T
NM_003119.4(SPG7):c.1664-7C>A
NM_003119.4(SPG7):c.1668T>G (p.Thr556=)
NM_003119.4(SPG7):c.1680C>T (p.Ser560=)
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.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1728G>C (p.Ser576=)
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala) rs1329063851
NM_003119.4(SPG7):c.1737C>G (p.Ala579=) rs2152411087
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.1773G>C (p.Val591=)
NM_003119.4(SPG7):c.1779+10G>A
NM_003119.4(SPG7):c.1779+12C>A
NM_003119.4(SPG7):c.1779+5G>T rs1567931957
NM_003119.4(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu) rs149749852
NM_003119.4(SPG7):c.1797G>T (p.Arg599=)
NM_003119.4(SPG7):c.1803C>T (p.Asn601=)
NM_003119.4(SPG7):c.184-19del
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.1887C>G (p.Ala629=)
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp) rs1350253332
NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)
NM_003119.4(SPG7):c.1911A>T (p.Ala637=) rs1597664239
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
NM_003119.4(SPG7):c.1927G>A (p.Val643Ile) rs778965259
NM_003119.4(SPG7):c.192A>G (p.Gln64=)
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1936+16G>A
NM_003119.4(SPG7):c.1936+17C>T
NM_003119.4(SPG7):c.1936+2T>A rs1567933730
NM_003119.4(SPG7):c.1936+8G>A
NM_003119.4(SPG7):c.1936+9C>T
NM_003119.4(SPG7):c.1937-10C>T
NM_003119.4(SPG7):c.1937-11C>T
NM_003119.4(SPG7):c.1937-16C>T
NM_003119.4(SPG7):c.1939del rs1567934181
NM_003119.4(SPG7):c.193T>C (p.Leu65=)
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) rs373143136
NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)
NM_003119.4(SPG7):c.1974C>G (p.Ala658=)
NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)
NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)
NM_003119.4(SPG7):c.2013C>T (p.Ile671=)
NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr) rs2152412186
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu) rs72547553
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.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
NM_003119.4(SPG7):c.2102A>G (p.His701Arg) rs372180825
NM_003119.4(SPG7):c.2103+2_2103+20del rs1743896594
NM_003119.4(SPG7):c.2104-12C>G
NM_003119.4(SPG7):c.2104-1G>C
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
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.2140_2141del (p.Thr714fs)
NM_003119.4(SPG7):c.2142C>T (p.Thr714=) rs201878285
NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)
NM_003119.4(SPG7):c.2149G>A (p.Val717Met)
NM_003119.4(SPG7):c.2173T>C (p.Leu725=)
NM_003119.4(SPG7):c.2182-4C>A
NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) rs763126378
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
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.2322C>T (p.Gly774=)
NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) rs527363502
NM_003119.4(SPG7):c.2334C>T (p.Thr778=)
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.244C>T (p.Gln82Ter) rs146115797
NM_003119.4(SPG7):c.246A>G (p.Gln82=)
NM_003119.4(SPG7):c.248A>G (p.His83Arg)
NM_003119.4(SPG7):c.264A>C (p.Pro88=)
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
NM_003119.4(SPG7):c.286+1G>T rs1452259575
NM_003119.4(SPG7):c.286+3A>G rs201056405
NM_003119.4(SPG7):c.288T>G (p.Gly96=) rs2058041135
NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)
NM_003119.4(SPG7):c.339G>A (p.Lys113=)
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.357G>A (p.Lys119=) rs1209945253
NM_003119.4(SPG7):c.360G>A (p.Ala120=)
NM_003119.4(SPG7):c.360G>C (p.Ala120=) rs376376359
NM_003119.4(SPG7):c.372C>T (p.Asp124=)
NM_003119.4(SPG7):c.375A>C (p.Glu125Asp)
NM_003119.4(SPG7):c.376+12T>C
NM_003119.4(SPG7):c.376+16_376+18del
NM_003119.4(SPG7):c.376+18T>A rs2152394850
NM_003119.4(SPG7):c.377-6G>A rs1555611445
NM_003119.4(SPG7):c.389G>A (p.Arg130His)
NM_003119.4(SPG7):c.395A>C (p.Glu132Ala)
NM_003119.4(SPG7):c.402C>T (p.Asp134=)
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) rs377268309
NM_003119.4(SPG7):c.438G>A (p.Leu146=)
NM_003119.4(SPG7):c.439G>A (p.Val147Ile)
NM_003119.4(SPG7):c.450T>C (p.Val150=)
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>C (p.Ile165=)
NM_003119.4(SPG7):c.495T>G (p.Ile165Met)
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
NM_003119.4(SPG7):c.558G>C (p.Val186=) rs754129188
NM_003119.4(SPG7):c.560C>T (p.Pro187Leu) rs2152399546
NM_003119.4(SPG7):c.561T>C (p.Pro187=)
NM_003119.4(SPG7):c.573G>A (p.Val191=)
NM_003119.4(SPG7):c.596del (p.Gly199fs) rs752843742
NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.618+14_618+36del
NM_003119.4(SPG7):c.619-10T>C
NM_003119.4(SPG7):c.619-20C>G
NM_003119.4(SPG7):c.619-3C>G rs199740629
NM_003119.4(SPG7):c.619-6C>T rs1597624127
NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)
NM_003119.4(SPG7):c.627C>T (p.Ala209=)
NM_003119.4(SPG7):c.630G>A (p.Leu210=)
NM_003119.4(SPG7):c.672G>A (p.Glu224=)
NM_003119.4(SPG7):c.696G>T (p.Glu232Asp)
NM_003119.4(SPG7):c.697C>T (p.Leu233=) rs751353500
NM_003119.4(SPG7):c.705C>T (p.Ile235=) rs115244515
NM_003119.4(SPG7):c.711del (p.Lys238fs) rs2152400490
NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
NM_003119.4(SPG7):c.732C>G (p.Ser244=)
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
NM_003119.4(SPG7):c.749del (p.Phe250fs) rs1355240257
NM_003119.4(SPG7):c.750C>T (p.Phe250=)
NM_003119.4(SPG7):c.758+14A>G
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.759-12_759-11del rs779395474
NM_003119.4(SPG7):c.759-15T>G
NM_003119.4(SPG7):c.759-18CT[2]
NM_003119.4(SPG7):c.759-20G>C
NM_003119.4(SPG7):c.759-5G>A
NM_003119.4(SPG7):c.762C>T (p.Ala254=)
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.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.792C>T (p.Gly264=)
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.850_851delinsC (p.Phe284fs) rs768595656
NM_003119.4(SPG7):c.861+10G>A
NM_003119.4(SPG7):c.861+18G>T
NM_003119.4(SPG7):c.861+19A>G rs2152402127
NM_003119.4(SPG7):c.861+1G>T rs1412575396
NM_003119.4(SPG7):c.861+20G>C
NM_003119.4(SPG7):c.861+6T>C rs765178985
NM_003119.4(SPG7):c.861T>C (p.Phe287=)
NM_003119.4(SPG7):c.861del (p.Phe287fs) rs797046003
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.862-18T>G
NM_003119.4(SPG7):c.931G>A (p.Val311Met)
NM_003119.4(SPG7):c.932T>A (p.Val311Glu) rs1060503429
NM_003119.4(SPG7):c.933G>C (p.Val311=) rs1157953850
NM_003119.4(SPG7):c.934dup (p.Ala312fs) rs2058330715
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.951C>A (p.Ala317=)
NM_003119.4(SPG7):c.960del (p.Val321fs)
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.971T>C (p.Phe324Ser) rs2152402791
NM_003119.4(SPG7):c.976_987+3del rs878854606
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro) rs1555612612
NM_003119.4(SPG7):c.987+11C>T
NM_003119.4(SPG7):c.987+5A>C rs4785691
NM_003119.4(SPG7):c.987+5A>G rs4785691
NM_003119.4(SPG7):c.988-12G>C
NM_003119.4(SPG7):c.988-17T>C

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.