ClinVar Miner

List of variants in gene SPG7 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1552+244T>C rs462561 0.95430
NM_003119.4(SPG7):c.1324+4542A>G rs382745 0.46503
NM_003119.4(SPG7):c.1151-111A>G rs463701 0.45727
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_003119.4(SPG7):c.1324+197C>T rs595869 0.44164
NM_003119.4(SPG7):c.286+46C>T rs3922633 0.43914
NM_003119.4(SPG7):c.184-132T>C rs3922634 0.43895
NM_003119.4(SPG7):c.1324+4020A>G rs647747 0.43709
NM_003119.4(SPG7):c.1324+308G>T rs680716 0.42590
NM_003119.4(SPG7):c.287-233G>A rs11076605 0.42573
NM_003119.4(SPG7):c.184-235G>A rs4238831 0.42308
NM_003119.4(SPG7):c.759-162G>A rs3803677 0.42305
NM_003119.4(SPG7):c.377-171G>A rs3803680 0.42187
NM_003119.4(SPG7):c.861+119C>T rs3803676 0.41924
NM_003119.4(SPG7):c.619-115C>T rs3935627 0.24728
NM_003119.4(SPG7):c.1552+205G>A rs2292952 0.21945
NM_003119.4(SPG7):c.1937-54A>G rs730264 0.20039
NM_003119.4(SPG7):c.1450-29G>A rs462464 0.20021
NM_003119.4(SPG7):c.1552+65A>C rs461405 0.19628
NM_003119.4(SPG7):c.1779+47G>C rs3794632 0.19456
NM_003119.4(SPG7):c.1664-344T>C rs7359417 0.17643
NM_003119.4(SPG7):c.1664-130G>T rs71396924 0.17533
NM_003119.4(SPG7):c.1664-177C>T rs71396923 0.17081
NM_003119.4(SPG7):c.1664-112G>A rs66845605 0.17001
NM_003119.4(SPG7):c.287-280A>G rs35463145 0.14451
NM_003119.4(SPG7):c.758+322C>T rs34607811 0.13953
NM_003119.4(SPG7):c.1324+3841dup rs149246489 0.12932
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.1324+3850T>C rs182897688 0.11337
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.*33C>T rs60711430 0.03853
NM_003119.4(SPG7):c.1936+154G>T rs8044175 0.03831
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711 0.02864
NM_003119.4(SPG7):c.1324+3864T>C rs1248920221 0.02775
NM_003119.4(SPG7):c.619-50C>T rs74037215 0.02679
NM_003119.4(SPG7):c.987+290C>A rs74037218 0.02597
NM_003119.4(SPG7):c.758+294C>T rs141882852 0.02459
NM_003119.4(SPG7):c.1324+3941G>C rs150127651 0.02273
NM_003119.4(SPG7):c.184-300G>C rs146032762 0.01952
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_003119.4(SPG7):c.1324+3855T>C rs1352978556 0.01880
NM_003119.4(SPG7):c.1552+231C>T rs78210031 0.01838
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.1324+3865G>C rs1302734900 0.01760
NM_003119.4(SPG7):c.1324+3884C>G rs79179680 0.01680
NM_003119.4(SPG7):c.1324+3861del rs1567918837 0.01638
NM_003119.4(SPG7):c.1324+3869T>C rs1159419332 0.01621
NM_003119.4(SPG7):c.286+148C>A rs115973339 0.01529
NM_003119.4(SPG7):c.1779+238A>G rs17177403 0.01518
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003119.4(SPG7):c.1324+3883T>C rs1416602883 0.01405
NM_003119.4(SPG7):c.861+196C>T rs117896335 0.01380
NM_003119.4(SPG7):c.376+140C>T rs112674109 0.01373
NM_003119.4(SPG7):c.376+105G>T rs112467227 0.01372
NM_003119.4(SPG7):c.861+321T>C rs115214478 0.01364
NM_003119.4(SPG7):c.759-333G>A rs112527507 0.01341
NM_003119.4(SPG7):c.987+216A>G rs113166127 0.01324
NM_003119.4(SPG7):c.987+57C>T rs112188712 0.01277
NM_003119.4(SPG7):c.758+316A>G rs112355651 0.01221
NM_003119.4(SPG7):c.881G>A (p.Arg294His) rs115661328 0.01169
NM_003119.4(SPG7):c.1324+3845T>C rs983550161 0.01157
NM_003119.4(SPG7):c.1324+3842_1324+3850del rs200111472 0.01141
NM_003119.4(SPG7):c.1552+50G>A rs116358196 0.01132
NM_003119.4(SPG7):c.*106A>G rs16965816 0.01111
NM_003119.4(SPG7):c.*118A>G rs113158735 0.01111
NM_003119.4(SPG7):c.*122T>C rs113515220 0.01111
NM_003119.4(SPG7):c.*195C>T rs113818240 0.01111
NM_003119.4(SPG7):c.*140G>T rs112587045 0.01110
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_003119.4(SPG7):c.619-233C>T rs9929615 0.01099
NM_003119.4(SPG7):c.1324+4086A>G rs115070727 0.01098
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_003119.4(SPG7):c.1937-44G>A rs115067204 0.00948
NM_003119.4(SPG7):c.1324+272A>G rs55674596 0.00947
NM_003119.4(SPG7):c.1449+84C>T rs191198001 0.00838
NM_003119.4(SPG7):c.619-228C>T rs114374156 0.00743
NM_003119.4(SPG7):c.2181+235C>G rs113929056 0.00665
NM_003119.4(SPG7):c.2181+118A>G rs111682221 0.00659
NM_003119.4(SPG7):c.987+151T>C rs114788941 0.00650
NM_003119.4(SPG7):c.1936+12C>T rs112379588 0.00628
NM_003119.4(SPG7):c.1324+3861A>G rs78351666 0.00562
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.1552+103C>T rs142649413 0.00550
NM_003119.4(SPG7):c.1780-259T>G rs139927231 0.00542
NM_003119.4(SPG7):c.286+218G>A rs146287935 0.00511
NM_003119.4(SPG7):c.1449+55C>G rs114361295 0.00505
NM_003119.4(SPG7):c.1324+302C>T rs140722005 0.00497
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_003119.4(SPG7):c.1553-131C>G rs375322347 0.00439
NM_003119.4(SPG7):c.988-110C>T rs573458956 0.00428
NM_003119.4(SPG7):c.377-298G>A rs185698845 0.00427
NM_003119.4(SPG7):c.1324+222C>T rs144030383 0.00424
NM_003119.4(SPG7):c.988-115G>A rs149976628 0.00398
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_003119.4(SPG7):c.2104-24del rs374488085 0.00364
NM_003119.4(SPG7):c.377-24C>T rs78628451 0.00364
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1663+112C>T rs182191298 0.00359
NM_003119.4(SPG7):c.287-70A>C rs201315466 0.00359
NM_003119.4(SPG7):c.2104-231C>T rs550196385 0.00351
NM_003119.4(SPG7):c.1779+20G>A rs145805850 0.00345
NM_003119.4(SPG7):c.988-235T>G rs186569117 0.00335
NM_003119.4(SPG7):c.1325-302G>A rs149143391 0.00295
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_003119.4(SPG7):c.1324+4173C>T rs144415749 0.00212
NM_003119.4(SPG7):c.1324+4187C>T rs143254053 0.00185
NM_003119.4(SPG7):c.1779+69G>A rs532031566 0.00164
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.318G>A (p.Leu106=) rs115601365 0.00031
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) rs146115797 0.00027
NM_003119.4(SPG7):c.1937-9G>A rs371739639 0.00026
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.220G>A (p.Gly74Arg) rs114854791 0.00022
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.1586C>T (p.Ala529Val) rs748600162 0.00011
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 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.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.2103+7C>T rs372981678 0.00008
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.1325-6C>T rs371986686 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.516C>T (p.His172=) rs141065708 0.00006
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) rs748024868 0.00004
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_003119.4(SPG7):c.1553-6T>G rs778948827 0.00004
NM_003119.4(SPG7):c.1663+14G>A rs368500645 0.00004
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594 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.2298C>G (p.Ala766=) rs61756187 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.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.1305G>T (p.Gln435His) rs559906913 0.00003
NM_003119.4(SPG7):c.1552+16G>T rs746083152 0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr) rs747521455 0.00003
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu) rs149474131 0.00003
NM_003119.4(SPG7):c.377-8C>T rs373168400 0.00003
NM_003119.4(SPG7):c.445G>A (p.Ala149Thr) rs777638594 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.1771G>A (p.Val591Met) rs199804717 0.00002
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp) rs764645740 0.00002
NM_003119.4(SPG7):c.2106A>G (p.Glu702=) rs755763500 0.00002
NM_003119.4(SPG7):c.313A>T (p.Arg105Trp) rs374082677 0.00002
NM_003119.4(SPG7):c.359C>T (p.Ala120Val) rs530877336 0.00002
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys) rs863224217 0.00002
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132 0.00002
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) rs368612689 0.00001
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val) rs776176403 0.00001
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val) rs746668495 0.00001
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904 0.00001
NM_003119.4(SPG7):c.1573T>C (p.Cys525Arg) rs2058586638 0.00001
NM_003119.4(SPG7):c.1587G>A (p.Ala529=) rs115743362 0.00001
NM_003119.4(SPG7):c.1638G>A (p.Glu546=) rs984343415 0.00001
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp) rs863224220 0.00001
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) rs145441974 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.1976A>G (p.Tyr659Cys) rs1052772091 0.00001
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) rs752989523 0.00001
NM_003119.4(SPG7):c.204A>G (p.Leu68=) rs566363528 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.2103+8G>A rs1015822207 0.00001
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333 0.00001
NM_003119.4(SPG7):c.2143G>A (p.Glu715Lys) rs374302115 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.2227A>C (p.Ile743Leu) rs372231786 0.00001
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn) rs374941242 0.00001
NM_003119.4(SPG7):c.2314G>T (p.Asp772Tyr) rs1235854891 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln) rs948625936 0.00001
NM_003119.4(SPG7):c.524T>C (p.Leu175Pro) rs149797758 0.00001
NM_003119.4(SPG7):c.601G>A (p.Val201Met) rs775545751 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 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.898G>A (p.Gly300Arg) rs771060044 0.00001
NM_003119.4(SPG7):c.941T>C (p.Met314Thr) rs863224219 0.00001
GRCh37/hg19 16q24.3(chr16:89623304-89624182)x3
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
NM_003119.4(SPG7):c.1014C>T (p.Gly338=) rs576575379
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1150+19_1150+31del rs1379023827
NM_003119.4(SPG7):c.1166G>T (p.Arg389Leu)
NM_003119.4(SPG7):c.1171C>T (p.Arg391Trp) rs1057524520
NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter) rs2058358241
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln) rs771782004
NM_003119.4(SPG7):c.1225_1229del (p.Glu409fs)
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1261A>G (p.Met421Val)
NM_003119.4(SPG7):c.1324+148dup rs11403793
NM_003119.4(SPG7):c.1324+185C>T rs146843515
NM_003119.4(SPG7):c.1324+3816GGTGAGGCG[2] rs543538383
NM_003119.4(SPG7):c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCGGGTGAGG rs1567918726
NM_003119.4(SPG7):c.1324+3849_1324+3850insCGGGCGAGGCGGGCGAGG rs1567918794
NM_003119.4(SPG7):c.1324+3852A>G rs1238669262
NM_003119.4(SPG7):c.1324+3864_1324+3867del rs1190509972
NM_003119.4(SPG7):c.1324+3878T>C rs1375985161
NM_003119.4(SPG7):c.1324+3893_1324+3894insAGGTGAGGTGAGGC rs1555613855
NM_003119.4(SPG7):c.1324+3989_1324+3997dup rs1236753175
NM_003119.4(SPG7):c.1324+4109C>A rs199969908
NM_003119.4(SPG7):c.1324+4109C>T rs199969908
NM_003119.4(SPG7):c.1324+4143C>T
NM_003119.4(SPG7):c.1324+4312G>T rs115675101
NM_003119.4(SPG7):c.1364C>T (p.Thr455Met)
NM_003119.4(SPG7):c.1449+174C>T rs78718968
NM_003119.4(SPG7):c.1450-75C>A rs1023859750
NM_003119.4(SPG7):c.1450-75del rs35936864
NM_003119.4(SPG7):c.1450-75dup rs35936864
NM_003119.4(SPG7):c.1450-78C>T rs577802159
NM_003119.4(SPG7):c.1502C>T (p.Ser501Phe)
NM_003119.4(SPG7):c.1553-8_1553-7del rs567981282
NM_003119.4(SPG7):c.1613C>G (p.Thr538Ser) rs1160298693
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1656C>T (p.Val552=) rs758338586
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1760A>C (p.His587Pro) rs1057524632
NM_003119.4(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.4(SPG7):c.1780-94C>T rs112372464
NM_003119.4(SPG7):c.184-4del rs5818722
NM_003119.4(SPG7):c.184-4dup rs5818722
NM_003119.4(SPG7):c.1890G>A (p.Leu630=) rs767213993
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1929C>T (p.Val643=) rs746082965
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1939del rs1567934181
NM_003119.4(SPG7):c.1940C>T (p.Ala647Val) rs776380988
NM_003119.4(SPG7):c.1953G>A (p.Leu651=) rs1057523048
NM_003119.4(SPG7):c.1987A>T (p.Lys663Ter) rs2152412171
NM_003119.4(SPG7):c.2041G>C (p.Glu681Gln) rs863224221
NM_003119.4(SPG7):c.2047C>T (p.Leu683Phe) rs769512676
NM_003119.4(SPG7):c.2050A>T (p.Met684Leu)
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2098G>A (p.Asp700Asn) rs2058662790
NM_003119.4(SPG7):c.2103+95G>T rs560186519
NM_003119.4(SPG7):c.2142C>T (p.Thr714=) rs201878285
NM_003119.4(SPG7):c.2178G>A (p.Gln726=) rs1175352443
NM_003119.4(SPG7):c.2181+255C>G rs76647055
NM_003119.4(SPG7):c.2182-283G>A rs113066938
NM_003119.4(SPG7):c.2189del (p.Asn730fs) rs863224223
NM_003119.4(SPG7):c.2311C>G (p.Gln771Glu) rs863224214
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) rs527363502
NM_003119.4(SPG7):c.377-245_377-244insTCTCA rs59761318
NM_003119.4(SPG7):c.412T>A (p.Tyr138Asn) rs863224218
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) rs377268309
NM_003119.4(SPG7):c.416_432del (p.Arg139fs) rs1085307874
NM_003119.4(SPG7):c.498C>T (p.Ser166=) rs780508442
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.618+15G>A rs766767456
NM_003119.4(SPG7):c.618+170C>T rs8051680
NM_003119.4(SPG7):c.619-47G>A rs3935626
NM_003119.4(SPG7):c.759-126C>T rs74037217
NM_003119.4(SPG7):c.806G>A (p.Trp269Ter) rs1235945505
NM_003119.4(SPG7):c.861+313T>C rs112592929
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.862-34G>T rs4785690
NM_003119.4(SPG7):c.865C>T (p.Gln289Ter) rs1131691968
NM_003119.4(SPG7):c.880C>G (p.Arg294Gly)
NM_003119.4(SPG7):c.976_987+3del rs878854606
NM_003119.4(SPG7):c.987+5A>G rs4785691

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