ClinVar Miner

List of variants in gene SPG11 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.3146-102G>T rs12909507 0.99909
NM_025137.4(SPG11):c.667+103T>C rs7165146 0.65770
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_025137.4(SPG11):c.4743+234G>A rs74429074 0.31043
NM_025137.4(SPG11):c.3291+261G>A rs12324194 0.10463
NM_025137.4(SPG11):c.3291+294A>G rs12324710 0.10270
NM_025137.4(SPG11):c.258-113C>A rs79974470 0.08458
NM_025137.4(SPG11):c.1008-87T>C rs78975199 0.08451
NM_025137.4(SPG11):c.6206-119A>G rs75833665 0.08134
NM_025137.4(SPG11):c.4743+291C>T rs144544199 0.05130
NM_025137.4(SPG11):c.2620+270T>G rs77656273 0.04639
NM_025137.4(SPG11):c.2317-171C>T rs76309661 0.04623
NM_025137.4(SPG11):c.6477+194T>C rs78531494 0.03553
NM_025137.4(SPG11):c.1736-143G>A rs77051719 0.03422
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_025137.4(SPG11):c.6477+97G>A rs75210501 0.02124
NM_025137.4(SPG11):c.257+276G>A rs75281924 0.02123
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_025137.4(SPG11):c.6585+210T>C rs144630601 0.02024
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_025137.4(SPG11):c.443-316T>G rs114266029 0.01372
NM_025137.4(SPG11):c.443-212G>C rs112155039 0.01314
NM_025137.4(SPG11):c.2067+222A>C rs112818446 0.01302
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_025137.4(SPG11):c.257+35G>A rs117101120 0.01291
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_025137.4(SPG11):c.442+99C>T rs75927439 0.01275
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_025137.4(SPG11):c.4636-63A>G rs115758040 0.01173
NM_025137.4(SPG11):c.6586-111C>T rs79493287 0.01098
NM_025137.4(SPG11):c.3038+220T>G rs146977031 0.00970
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_025137.4(SPG11):c.2316+172A>G rs112793928 0.00957
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_025137.4(SPG11):c.6344-74C>T rs2277610 0.00935
NM_025137.4(SPG11):c.870-207A>G rs145474933 0.00894
NM_025137.4(SPG11):c.3686+266A>G rs57267437 0.00871
NM_025137.4(SPG11):c.3521-296G>A rs113840402 0.00870
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_025137.4(SPG11):c.6006+253T>G rs74355314 0.00814
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733 0.00809
NM_025137.4(SPG11):c.6007-147C>T rs116029561 0.00805
NM_025137.4(SPG11):c.667+234A>G rs140282876 0.00785
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_025137.4(SPG11):c.6754+50A>G rs199549712 0.00780
NM_025137.4(SPG11):c.3687-282T>C rs115892090 0.00778
NM_025137.4(SPG11):c.4162-73T>G rs7171781 0.00776
NM_025137.4(SPG11):c.3038+270G>A rs74938894 0.00752
NM_025137.4(SPG11):c.443-179C>T rs75806117 0.00747
NM_025137.4(SPG11):c.870-154G>A rs76917735 0.00745
NM_025137.4(SPG11):c.668-213G>A rs115792933 0.00742
NM_025137.4(SPG11):c.1456+275C>A rs143891528 0.00728
NM_025137.4(SPG11):c.4635+176G>A rs147160468 0.00698
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_025137.4(SPG11):c.*243A>G rs116069609 0.00669
NM_025137.4(SPG11):c.7000-274G>T rs78142819 0.00669
NM_025137.4(SPG11):c.3292-287A>C rs111613304 0.00661
NM_025137.4(SPG11):c.1008-25_1008-24del rs371678656 0.00628
NM_025137.4(SPG11):c.1456+114A>T rs116251260 0.00626
NM_025137.4(SPG11):c.2621-28A>G rs112899684 0.00616
NM_025137.4(SPG11):c.4161+185G>A rs141284090 0.00614
NM_025137.4(SPG11):c.2244+42T>A rs79743427 0.00526
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_025137.4(SPG11):c.6755-294T>C rs115293798 0.00522
NM_025137.4(SPG11):c.3454-275C>A rs78573867 0.00519
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_025137.4(SPG11):c.1456+113T>G rs117607419 0.00501
NM_025137.4(SPG11):c.1891+97C>T rs139607472 0.00487
NM_025137.4(SPG11):c.2621-84T>G rs142577391 0.00473
NM_025137.4(SPG11):c.6344-300A>G rs138489652 0.00467
NM_025137.4(SPG11):c.3521-130A>G rs146229836 0.00457
NM_025137.4(SPG11):c.869+55G>T rs150413709 0.00451
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_025137.4(SPG11):c.5122-227T>C rs147645643 0.00448
NM_025137.4(SPG11):c.1457-75T>C rs185233876 0.00429
NM_025137.4(SPG11):c.6585+150del rs563529236 0.00429
NM_025137.4(SPG11):c.6206-88A>G rs144670825 0.00404
NM_025137.4(SPG11):c.1456+259A>G rs77749707 0.00399
NM_025137.4(SPG11):c.3038+74C>T rs143069428 0.00370
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_025137.4(SPG11):c.2621-26T>C rs184308123 0.00360
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_025137.4(SPG11):c.258-49A>G rs149934295 0.00269
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val) rs114945876 0.00165
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014 0.00127
NM_025137.4(SPG11):c.4743+257C>T rs184245230 0.00124
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly) rs143145331 0.00112
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His) rs201918221 0.00086
NM_025137.4(SPG11):c.6344-28C>T rs199934817 0.00070
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp) rs140164220 0.00046
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234 0.00045
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His) rs144165094 0.00045
NM_025137.4(SPG11):c.1126A>G (p.Asn376Asp) rs199765540 0.00041
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=) rs139532029 0.00039
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_025137.4(SPG11):c.257+15A>C rs538988623 0.00032
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu) rs373796566 0.00029
NM_025137.4(SPG11):c.2445-20A>T rs545137154 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser) rs185665930 0.00026
NM_025137.4(SPG11):c.1457-20A>C rs376343587 0.00024
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530 0.00024
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe) rs371716779 0.00017
NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg) rs142428867 0.00016
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His) rs150823040 0.00016
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys) rs144403346 0.00015
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr) rs141011688 0.00015
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=) rs145579121 0.00014
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653 0.00014
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr) rs144012151 0.00013
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) rs375896392 0.00008
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr) rs775799559 0.00007
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val) rs375256495 0.00006
NM_025137.4(SPG11):c.2669G>A (p.Arg890His) rs376143651 0.00006
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met) rs781271890 0.00006
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr) rs141035224 0.00006
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) rs371313584 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.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp) rs774273136 0.00005
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.445A>G (p.Ile149Val) rs1482526173 0.00004
NM_025137.4(SPG11):c.4907-13C>G rs778489486 0.00004
NM_025137.4(SPG11):c.6988C>T (p.Arg2330Trp) rs775295729 0.00004
NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser) rs139812925 0.00004
NM_025137.4(SPG11):c.2577A>G (p.Gln859=) rs753130399 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.3292-1G>T rs201217015 0.00003
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile) rs766403944 0.00003
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln) rs778960331 0.00003
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro) rs367550468 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met) rs200918991 0.00003
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.6621C>G (p.Ile2207Met) rs758008249 0.00003
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.2280C>T (p.Cys760=) rs567932275 0.00002
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp) rs370774571 0.00002
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu) rs748206574 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr) rs1331463203 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.2717A>G (p.Gln906Arg) rs2083706533 0.00001
NM_025137.4(SPG11):c.3039-5T>G rs763224175 0.00001
NM_025137.4(SPG11):c.3265A>G (p.Met1089Val) rs766016524 0.00001
NM_025137.4(SPG11):c.3292-6dup rs777377848 0.00001
NM_025137.4(SPG11):c.3453+5A>G rs983973496 0.00001
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr) rs747910594 0.00001
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser) rs1085307814 0.00001
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met) rs766297012 0.00001
NM_025137.4(SPG11):c.496C>G (p.Leu166Val) rs372037097 0.00001
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser) rs376207036 0.00001
NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter) rs1060501173 0.00001
NM_025137.4(SPG11):c.5189T>G (p.Phe1730Cys) rs755382678 0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767 0.00001
NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs) rs779321661 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.6017G>A (p.Cys2006Tyr) rs1179229360 0.00001
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln) rs1365555358 0.00001
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp) rs755438310 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu) rs752165478 0.00001
NM_025137.4(SPG11):c.6790C>G (p.Leu2264Val) rs1264367885 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.796C>T (p.Gln266Ter) rs1234882277 0.00001
NM_025137.4(SPG11):c.1007+56G>C rs114629245
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys) rs892937993
NM_025137.4(SPG11):c.1097T>G (p.Ile366Ser) rs2084790037
NM_025137.4(SPG11):c.1189A>T (p.Asn397Tyr) rs2084784763
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
NM_025137.4(SPG11):c.1292C>G (p.Ser431Cys) rs886051183
NM_025137.4(SPG11):c.1377C>T (p.Gly459=) rs768183449
NM_025137.4(SPG11):c.1457-190del rs35146282
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly) rs911119510
NM_025137.4(SPG11):c.1571G>A (p.Gly524Glu) rs773146881
NM_025137.4(SPG11):c.1603-309G>C rs116483186
NM_025137.4(SPG11):c.1603-54dup rs199611470
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter) rs312262732
NM_025137.4(SPG11):c.1736-193A>C rs145544135
NM_025137.4(SPG11):c.2068-2A>T rs1555456457
NM_025137.4(SPG11):c.2078C>T (p.Ala693Val) rs1329366922
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2244+215C>A rs149620992
NM_025137.4(SPG11):c.2244+271dup rs200813714
NM_025137.4(SPG11):c.2265del (p.Gln755fs) rs1215058780
NM_025137.4(SPG11):c.2316+63G>T rs117989754
NM_025137.4(SPG11):c.2443A>G (p.Arg815Gly)
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.251T>C (p.Phe84Ser) rs2085177672
NM_025137.4(SPG11):c.257+17A>G rs201878138
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.2621-153_2621-150del rs137921465
NM_025137.4(SPG11):c.2621-15dup rs577083743
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.2757_2775del (p.Leu920fs) rs1595888828
NM_025137.4(SPG11):c.27_28insCA (p.Ala10fs) rs1595945569
NM_025137.4(SPG11):c.2849dup (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_025137.4(SPG11):c.2912_2914delinsGAT (p.Ile971_Gln972delinsArgTer) rs1555454508
NM_025137.4(SPG11):c.3039-10T>G rs1567163243
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3260_3267dup (p.Tyr1090fs) rs1555453727
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.3686+2T>A rs1555451983
NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs) rs750663981
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr) rs76389165
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile) rs2140977252
NM_025137.4(SPG11):c.3975_3993del (p.Asn1325fs) rs1555451417
NM_025137.4(SPG11):c.3980T>C (p.Ile1327Thr)
NM_025137.4(SPG11):c.4002-168del rs201600828
NM_025137.4(SPG11):c.4002-169_4002-168del rs201600828
NM_025137.4(SPG11):c.4002-187dup rs201600828
NM_025137.4(SPG11):c.4002-3T>G
NM_025137.4(SPG11):c.4042C>T (p.Gln1348Ter) rs1555451152
NM_025137.4(SPG11):c.4162-10T>G
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp) rs374303102
NM_025137.4(SPG11):c.4529C>T (p.Thr1510Ile)
NM_025137.4(SPG11):c.4598G>A (p.Ser1533Asn)
NM_025137.4(SPG11):c.4743+204dup rs1198260134
NM_025137.4(SPG11):c.4743+220del rs1198260134
NM_025137.4(SPG11):c.4743+71T>G rs116323165
NM_025137.4(SPG11):c.4773dup (p.Val1592fs) rs1064795062
NM_025137.4(SPG11):c.4777del (p.Ile1593fs) rs1064797055
NM_025137.4(SPG11):c.4804G>T (p.Val1602Leu) rs754536969
NM_025137.4(SPG11):c.4907-154_4907-153dup rs71111868
NM_025137.4(SPG11):c.4907-154dup rs71111868
NM_025137.4(SPG11):c.4907-193C>T rs117309433
NM_025137.4(SPG11):c.5047G>A (p.Asp1683Asn)
NM_025137.4(SPG11):c.5121+121A>G rs534150787
NM_025137.4(SPG11):c.5121+13_5121+14dup rs34800368
NM_025137.4(SPG11):c.5121+13_5121+15dup rs34800368
NM_025137.4(SPG11):c.5121+13_5121+17dup rs34800368
NM_025137.4(SPG11):c.5121+13dup rs34800368
NM_025137.4(SPG11):c.5121+185_5121+186dup rs67858533
NM_025137.4(SPG11):c.5121+185dup rs67858533
NM_025137.4(SPG11):c.5121+32_5121+33del rs34800368
NM_025137.4(SPG11):c.5121+33del rs34800368
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg) rs1555448989
NM_025137.4(SPG11):c.528T>G (p.Ile176Met)
NM_025137.4(SPG11):c.5453C>G (p.Thr1818Arg) rs2140946992
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala) rs766375553
NM_025137.4(SPG11):c.56C>T (p.Thr19Ile) rs1555384052
NM_025137.4(SPG11):c.5710T>G (p.Tyr1904Asp) rs2082705435
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5769dup (p.Met1924fs) rs1595842556
NM_025137.4(SPG11):c.5842dup (p.Ile1948fs) rs1555448810
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6007-13G>C rs914339608
NM_025137.4(SPG11):c.6007-282_6007-281del rs141674769
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6305A>G (p.Asp2102Gly)
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.6478-214del rs1047071923
NM_025137.4(SPG11):c.6585+213_6585+217del rs1400952377
NM_025137.4(SPG11):c.6585+217_6585+218del rs368971139
NM_025137.4(SPG11):c.6585+220_6585+221dup rs1188132986
NM_025137.4(SPG11):c.6585+220dup rs1188132986
NM_025137.4(SPG11):c.6585+233del rs1188132986
NM_025137.4(SPG11):c.6586-7T>C rs1057524222
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6754+233_6754+239del rs138766339
NM_025137.4(SPG11):c.6754+57_6754+58dup rs397853802
NM_025137.4(SPG11):c.6754+57dup rs397853802
NM_025137.4(SPG11):c.6754+5G>A
NM_025137.4(SPG11):c.6754+74del rs397853802
NM_025137.4(SPG11):c.6754+75G>T rs1370132680
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.6755-3C>G rs1177654504
NM_025137.4(SPG11):c.6785AAC[1] (p.Gln2263del) rs1384234762
NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs) rs780301639
NM_025137.4(SPG11):c.6999+148G>C rs113977890
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val) rs780550991
NM_025137.4(SPG11):c.7151+302C>T rs8041448
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)
NM_025137.4(SPG11):c.801C>T (p.Asp267=) rs1555382889
NM_025137.4(SPG11):c.824G>T (p.Ser275Ile) rs769608648
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile) rs75309308

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