ClinVar Miner

List of variants in gene SPG11 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.667+5C>T rs375485062 0.00017
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755 0.00004
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_025137.4(SPG11):c.616dup (p.Thr206fs) rs756103019 0.00003
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter) rs764186203 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_025137.4(SPG11):c.1457-2A>G rs312262726 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840 0.00001
NM_025137.4(SPG11):c.2316+1G>A rs312262740 0.00001
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter) rs957519261 0.00001
NM_025137.4(SPG11):c.2612dup (p.Ser871fs) rs750101275 0.00001
NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter) rs771813705 0.00001
NM_025137.4(SPG11):c.3510del (p.Ala1171fs) rs1363959441 0.00001
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136 0.00001
NM_025137.4(SPG11):c.4075del (p.Ile1359fs) rs1405032433 0.00001
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter) rs753920931 0.00001
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) rs368276916 0.00001
NM_025137.4(SPG11):c.4939C>T (p.Gln1647Ter) rs959026057 0.00001
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter) rs1060501173 0.00001
NM_025137.4(SPG11):c.5322del (p.Leu1775fs) rs2082714895 0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767 0.00001
NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs) rs771558571 0.00001
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs) rs779321661 0.00001
NM_025137.4(SPG11):c.5866+1G>A rs765725393 0.00001
NM_025137.4(SPG11):c.5925_5934dup (p.Val1979Ter) rs749652788 0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6724C>T (p.Gln2242Ter) rs866400911 0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter) rs762984907 0.00001
NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter) rs369467143 0.00001
NM_025137.4(SPG11):c.7152-1G>C rs200079802 0.00001
NM_025137.4(SPG11):c.796C>T (p.Gln266Ter) rs1234882277 0.00001
NC_000015.10:g.(?_44570505)_(44575061_?)del
NC_000015.10:g.(?_44570525)_(44570658_?)del
NC_000015.10:g.(?_44570525)_(44575041_?)del
NC_000015.10:g.(?_44572663)_(44575061_?)del
NC_000015.10:g.(?_44572673)_(44575051_?)del
NC_000015.10:g.(?_44595249)_(44600642_?)del
NC_000015.10:g.(?_44595249)_(44663657_?)del
NC_000015.10:g.(?_44648856)_(44663657_?)del
NC_000015.9:g.(?_44855319)_(44952834_?)del
NC_000015.9:g.(?_44862703)_(44862876_?)del
NC_000015.9:g.(?_44862713)_(44867249_?)del
NC_000015.9:g.(?_44876002)_(44876766_?)del
NC_000015.9:g.(?_44877814)_(44878413_?)del
NC_000015.9:g.(?_44881444)_(44925841_?)dup
NC_000015.9:g.(?_44884509)_(44884656_?)del
NC_000015.9:g.(?_44887437)_(44892850_?)del
NC_000015.9:g.(?_44888261)_(44892850_?)del
NC_000015.9:g.(?_44890443)_(44890591_?)del
NC_000015.9:g.(?_44898203)_(44907784_?)del
NC_000015.9:g.(?_44912368)_(44925855_?)del
NC_000015.9:g.(?_44918519)_(44921596_?)del
NC_000015.9:g.(?_44941044)_(44944484_?)del
NC_000015.9:g.(?_44941054)_(44944474_?)del
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.4(SPG11):c.1013G>A (p.Trp338Ter)
NM_025137.4(SPG11):c.1021C>T (p.Gln341Ter)
NM_025137.4(SPG11):c.1090C>T (p.Gln364Ter) rs2141107140
NM_025137.4(SPG11):c.111_150delinsTC (p.Met38fs) rs2141138493
NM_025137.4(SPG11):c.1142_1143del (p.Val381fs) rs2141106935
NM_025137.4(SPG11):c.1144C>T (p.Gln382Ter)
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
NM_025137.4(SPG11):c.1152G>A (p.Trp384Ter) rs2084787275
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1261C>T (p.Gln421Ter)
NM_025137.4(SPG11):c.1275dup (p.Glu426fs) rs2141106403
NM_025137.4(SPG11):c.1326dup (p.Val443fs)
NM_025137.4(SPG11):c.136C>T (p.Gln46Ter)
NM_025137.4(SPG11):c.142dup (p.Arg48fs)
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1478T>A (p.Leu493Ter)
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs) rs758015273
NM_025137.4(SPG11):c.1482del (p.Phe494fs)
NM_025137.4(SPG11):c.154G>T (p.Glu52Ter)
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs) rs312262730
NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)
NM_025137.4(SPG11):c.1593dup (p.Ala532fs) rs2141098660
NM_025137.4(SPG11):c.1603-1G>C
NM_025137.4(SPG11):c.1654_1655insGGAAAATCTTTTTTTTTTTTTTTTTTTTTNNNNNNNNGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGA (p.Ser551_Lys552insArgLysIlePhePhePhePhePhePhePheXaaXaaXaaGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGly) rs2141056921
NM_025137.4(SPG11):c.1668_1669insSVAelement
NM_025137.4(SPG11):c.1697_1710delinsTCATCCCAT (p.Asp566fs)
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
NM_025137.4(SPG11):c.1841del (p.Thr614fs)
NM_025137.4(SPG11):c.1891+1G>T rs532072204
NM_025137.4(SPG11):c.1909C>T (p.Gln637Ter)
NM_025137.4(SPG11):c.1999G>T (p.Glu667Ter)
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs) rs773773579
NM_025137.4(SPG11):c.2038_2039dup (p.Ser680fs) rs1595898055
NM_025137.4(SPG11):c.2052_2055del (p.Lys684fs)
NM_025137.4(SPG11):c.2123del (p.Phe708fs)
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2163dup (p.Ile722fs) rs312262738
NM_025137.4(SPG11):c.218_221dup (p.Gly76fs) rs2141138155
NM_025137.4(SPG11):c.2198del (p.Asn732_Leu733insTer)
NM_025137.4(SPG11):c.2230del (p.Leu744fs)
NM_025137.4(SPG11):c.2265del (p.Gln755fs) rs1215058780
NM_025137.4(SPG11):c.2331del (p.Glu778fs) rs863224524
NM_025137.4(SPG11):c.2336_2339del (p.Lys779fs) rs1454768655
NM_025137.4(SPG11):c.2356G>T (p.Glu786Ter)
NM_025137.4(SPG11):c.2387_2388dup (p.Glu797fs)
NM_025137.4(SPG11):c.2444+1G>A rs312262743
NM_025137.4(SPG11):c.2444+1G>C rs312262743
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
NM_025137.4(SPG11):c.2471dup (p.Lys825fs)
NM_025137.4(SPG11):c.2523del (p.Glu841fs)
NM_025137.4(SPG11):c.2536dup (p.Asp846fs) rs2141027919
NM_025137.4(SPG11):c.2568G>A (p.Trp856Ter)
NM_025137.4(SPG11):c.257+1G>A
NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)
NM_025137.4(SPG11):c.2678G>A (p.Trp893Ter) rs1555455266
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_025137.4(SPG11):c.2737C>T (p.Gln913Ter) rs1555455246
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.2802del (p.Asn933_Tyr934insTer)
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) rs312262748
NM_025137.4(SPG11):c.2849del (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.2849dup (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter) rs372906057
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_025137.4(SPG11):c.2914C>T (p.Gln972Ter)
NM_025137.4(SPG11):c.2983dup (p.Tyr995fs)
NM_025137.4(SPG11):c.2985T>G (p.Tyr995Ter)
NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter) rs1060501176
NM_025137.4(SPG11):c.3000del (p.Leu1001fs) rs1555454488
NM_025137.4(SPG11):c.3019dup (p.Val1007fs)
NM_025137.4(SPG11):c.3034del (p.Tyr1012fs) rs2141014662
NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)
NM_025137.4(SPG11):c.3042dup (p.Ser1015Ter)
NM_025137.4(SPG11):c.3067G>T (p.Glu1023Ter)
NM_025137.4(SPG11):c.3070A>T (p.Lys1024Ter) rs1157530441
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs) rs746971952
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3077_3078del (p.Glu1026fs)
NM_025137.4(SPG11):c.3110dup (p.Leu1037fs) rs2141011028
NM_025137.4(SPG11):c.3140T>G (p.Leu1047Ter) rs2141010951
NM_025137.4(SPG11):c.3143_3144dup (p.Asp1049fs)
NM_025137.4(SPG11):c.3175_3176delinsTG (p.Ala1059Ter)
NM_025137.4(SPG11):c.3184C>T (p.Gln1062Ter) rs370252831
NM_025137.4(SPG11):c.3192del (p.Ile1065fs) rs1595878941
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs) rs767798272
NM_025137.4(SPG11):c.3289C>T (p.Gln1097Ter)
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.3311dup (p.Asn1104fs) rs753257469
NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer) rs768131119
NM_025137.4(SPG11):c.3340C>T (p.Gln1114Ter)
NM_025137.4(SPG11):c.3410dup (p.Pro1137_Ser1138insTer) rs1470512931
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter) rs312262711
NM_025137.4(SPG11):c.3514dup (p.Ile1172fs)
NM_025137.4(SPG11):c.3527G>A (p.Trp1176Ter)
NM_025137.4(SPG11):c.3573dup (p.Ala1192fs) rs2140982382
NM_025137.4(SPG11):c.3662_3665del (p.Ile1221fs)
NM_025137.4(SPG11):c.3691C>T (p.Gln1231Ter)
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs) rs750663981
NM_025137.4(SPG11):c.3736_3746del (p.His1246fs) rs2140978275
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs) rs312262757
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp) rs1555451521
NM_025137.4(SPG11):c.3909del (p.Lys1303fs) rs2140977221
NM_025137.4(SPG11):c.3980_3986del (p.Ile1327fs)
NM_025137.4(SPG11):c.3997A>T (p.Lys1333Ter) rs2140976871
NM_025137.4(SPG11):c.3998del (p.Lys1333fs)
NM_025137.4(SPG11):c.4043dup (p.Phe1349fs) rs2083058016
NM_025137.4(SPG11):c.4065dup (p.Lys1356fs)
NM_025137.4(SPG11):c.4072del (p.Ser1358fs)
NM_025137.4(SPG11):c.4107_4109delinsAG (p.Asn1369fs)
NM_025137.4(SPG11):c.419del (p.Lys140fs)
NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)
NM_025137.4(SPG11):c.433dup (p.Gln145fs) rs780266075
NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter) rs138103656
NM_025137.4(SPG11):c.442+1G>A
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter) rs2140971559
NM_025137.4(SPG11):c.4435-2A>G rs1555450825
NM_025137.4(SPG11):c.4453_4458delinsGAGGCCAGAACACTGAGGATAGGGGCCTGTTGTTTCACTGCTTCAACCAGAAGCCAGTGCCAGGAGTCTGGCTCCTCTGAGCATTGGAGCAGAATTTCAAATAAATCGGTCATCTCTTGTTTGCTTCCTTGAAGTTCCTGGGGGCACTTATTGCAGACTTGATCGCTGTCCATTTTGGAGGTGGGCACTGAGGGCAAGTTCTCAAAAGCCAGCCTTAAGTGGTCTTGAATGACTGGGCTGAAGTACTGGATAAGGGATTTCACCTAGAAGGCATATCAGATGATTAAACAGAAACCCAACTTTCAGTTTCAGCTGGAGCTGAAAATGTTAGAGAAAAGCATAGACAAAATTATGCTTTCTCACCCTGAACTAAGTCAGAGTGACTATTATGTAATTTTACAAAGCTGTA (p.Cys1485_Leu1486delinsGluAlaArgThrLeuArgIleGlyAlaCysCysPheThrAlaSerThrArgSerGlnCysGlnGluSerGlySerSerGluHisTrpSerArgIleSerAsnLysSerValIleSerCysLeuLeuProTer)
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.4534dup (p.Asp1512fs)
NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter) rs1337761270
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter) rs1362530862
NM_025137.4(SPG11):c.460_461del (p.Leu154fs) rs1595938132
NM_025137.4(SPG11):c.4621C>T (p.Gln1541Ter) rs2140969609
NM_025137.4(SPG11):c.4673del (p.Leu1558fs) rs2140963289
NM_025137.4(SPG11):c.4699_4700del (p.Glu1567fs) rs2082923260
NM_025137.4(SPG11):c.4725dup (p.Gln1576fs)
NM_025137.4(SPG11):c.4768del (p.His1590fs)
NM_025137.4(SPG11):c.4773dup (p.Val1592fs) rs1064795062
NM_025137.4(SPG11):c.4777del (p.Ile1593fs) rs1064797055
NM_025137.4(SPG11):c.4798dup (p.Asp1600fs)
NM_025137.4(SPG11):c.4811dup (p.Leu1605fs) rs760618394
NM_025137.4(SPG11):c.4813del (p.Leu1605fs) rs2082844329
NM_025137.4(SPG11):c.4817del (p.Leu1605_Leu1606insTer)
NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
NM_025137.4(SPG11):c.4834C>T (p.Gln1612Ter)
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs) rs1418873962
NM_025137.4(SPG11):c.4870C>T (p.Gln1624Ter)
NM_025137.4(SPG11):c.4871del (p.Gln1624fs)
NM_025137.4(SPG11):c.4874dup (p.Phe1626fs)
NM_025137.4(SPG11):c.5014G>T (p.Glu1672Ter)
NM_025137.4(SPG11):c.5058_5061del (p.Ala1687fs)
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter) rs1462607878
NM_025137.4(SPG11):c.50G>A (p.Trp17Ter) rs1339135039
NM_025137.4(SPG11):c.5109_5115dup (p.Lys1706delinsGlyTyrTer)
NM_025137.4(SPG11):c.5117_5118del (p.Lys1706fs)
NM_025137.4(SPG11):c.5148dup (p.His1717fs) rs1422477670
NM_025137.4(SPG11):c.5161_5176del (p.Trp1721fs)
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_025137.4(SPG11):c.5175dup (p.Ala1726fs)
NM_025137.4(SPG11):c.5199del (p.Lys1733fs) rs779268551
NM_025137.4(SPG11):c.5199dup (p.Cys1734fs)
NM_025137.4(SPG11):c.5220_5224del (p.Lys1740fs)
NM_025137.4(SPG11):c.5290dup (p.Thr1764fs)
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.5335del (p.Ala1779fs)
NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter) rs1287370710
NM_025137.4(SPG11):c.53dup (p.Thr19fs)
NM_025137.4(SPG11):c.5422C>T (p.Gln1808Ter)
NM_025137.4(SPG11):c.5443C>T (p.Gln1815Ter)
NM_025137.4(SPG11):c.5465_5477del (p.Phe1822fs) rs1567138536
NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs)
NM_025137.4(SPG11):c.5598C>A (p.Cys1866Ter)
NM_025137.4(SPG11):c.5607del (p.Arg1869fs)
NM_025137.4(SPG11):c.5703del (p.His1902fs) rs312262769
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5769dup (p.Met1924fs) rs1595842556
NM_025137.4(SPG11):c.577del (p.Leu193fs)
NM_025137.4(SPG11):c.5794del (p.His1932fs)
NM_025137.4(SPG11):c.5806C>T (p.Gln1936Ter)
NM_025137.4(SPG11):c.5815G>T (p.Glu1939Ter) rs2082702986
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs) rs1555448810
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_025137.4(SPG11):c.5854dup (p.Arg1952fs)
NM_025137.4(SPG11):c.5864del (p.Ser1955fs)
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.5867-1G>A rs1060501168
NM_025137.4(SPG11):c.5867-1G>T rs1060501168
NM_025137.4(SPG11):c.5876dup (p.Asp1960fs)
NM_025137.4(SPG11):c.5880_5881dup (p.Ser1961fs)
NM_025137.4(SPG11):c.5900_5901dup (p.Pro1968fs) rs2140931516
NM_025137.4(SPG11):c.5972del (p.Cys1991fs) rs2082503070
NM_025137.4(SPG11):c.5985_5986del (p.Cys1996fs) rs1555447724
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5992_5995del (p.Tyr1998fs)
NM_025137.4(SPG11):c.6021del (p.Tyr2008fs) rs886051179
NM_025137.4(SPG11):c.6067dup (p.Ile2023fs)
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6124_6125del (p.Gln2042fs)
NM_025137.4(SPG11):c.6134_6135dup (p.Pro2046fs) rs2140928925
NM_025137.4(SPG11):c.6158_6163del (p.Val2053_Ala2054del)
NM_025137.4(SPG11):c.6200del (p.Gly2067fs)
NM_025137.4(SPG11):c.6203dup (p.Gly2069fs)
NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs) rs1555447459
NM_025137.4(SPG11):c.6261del (p.Thr2088fs) rs2140927039
NM_025137.4(SPG11):c.6266dup (p.Cys2090fs)
NM_025137.4(SPG11):c.6269_6270del (p.Cys2090fs) rs749705821
NM_025137.4(SPG11):c.6284T>A (p.Leu2095Ter)
NM_025137.4(SPG11):c.6306_6307insC (p.Lys2103fs)
NM_025137.4(SPG11):c.6317_6335del (p.Ser2106fs) rs1439018038
NM_025137.4(SPG11):c.6326_6327insCTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTCCTCCGTTCCCCA (p.His2109_Gly2110insPheTyrThrValGlyGlyThrValAsnTer)
NM_025137.4(SPG11):c.6331del (p.Glu2111fs) rs2140926873
NM_025137.4(SPG11):c.6347_6348del (p.Thr2116fs)
NM_025137.4(SPG11):c.6365_6387del (p.Ala2122fs) rs2140923165
NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter) rs1567129475
NM_025137.4(SPG11):c.6424dup (p.Ala2142fs)
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs) rs2082401685
NM_025137.4(SPG11):c.6451del (p.Ala2151fs) rs312262779
NM_025137.4(SPG11):c.6507C>A (p.Tyr2169Ter)
NM_025137.4(SPG11):c.6523del (p.Ile2175fs)
NM_025137.4(SPG11):c.6540del (p.His2180fs) rs2140920898
NM_025137.4(SPG11):c.6658_6659del (p.Met2220fs)
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6738del (p.Ile2246fs) rs1555446712
NM_025137.4(SPG11):c.6738dup (p.Glu2247Ter)
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6753G>A (p.Trp2251Ter) rs2082333064
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_025137.4(SPG11):c.6787C>T (p.Gln2263Ter)
NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs) rs1268815918
NM_025137.4(SPG11):c.6831del (p.Ser2278fs)
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs) rs780301639
NM_025137.4(SPG11):c.6971_6972dup (p.Ile2325fs)
NM_025137.4(SPG11):c.69del (p.Arg24fs)
NM_025137.4(SPG11):c.7000-3_7000-2insAGG rs312262787
NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
NM_025137.4(SPG11):c.7043del (p.Ala2348fs)
NM_025137.4(SPG11):c.7055_7058dup (p.Gln2354fs) rs2140911440
NM_025137.4(SPG11):c.7056C>A (p.Tyr2352Ter) rs746329317
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer) rs2082272406
NM_025137.4(SPG11):c.7067_7071dup (p.Lys2358fs)
NM_025137.4(SPG11):c.7083dup (p.Asn2362Ter)
NM_025137.4(SPG11):c.7087_7115inv (p.Tyr2363_Leu2372delinsAsnLeuCysCysLeuAsnSerSerLysTer)
NM_025137.4(SPG11):c.7093_7094insCTT (p.Glu2365delinsAlaTer) rs2140911376
NM_025137.4(SPG11):c.7105C>T (p.Gln2369Ter) rs1397432412
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter) rs1555446078
NM_025137.4(SPG11):c.7152-2A>G
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.727del (p.Glu243fs)
NM_025137.4(SPG11):c.749_750insCTG (p.Gln250delinsHisTer)
NM_025137.4(SPG11):c.773dup (p.Phe259fs) rs2141121011
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter) rs765477482
NM_025137.4(SPG11):c.819dup (p.Val274fs)
NM_025137.4(SPG11):c.852_856del (p.Asn284fs) rs1595935001
NM_025137.4(SPG11):c.869+1G>A rs312262721
NM_025137.4(SPG11):c.925G>T (p.Gly309Ter) rs760659950
NM_025137.4(SPG11):c.953del (p.Pro318fs) rs2141108180

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