ClinVar Miner

List of variants in gene SPAST

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 351
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HGVS dbSNP
GRCh37/hg19 2p22.3(chr2:32375334-32389646)x3
NC_000002.11:g.(?_32288680)_(32289315_?)del
NC_000002.11:g.(?_32288881)_(32289335_?)del
NC_000002.11:g.(?_32288895)_(32312653_?)del
NC_000002.11:g.(?_32339687)_(32341301_?)dup
NC_000002.11:g.(?_32339687)_(32353568_?)del
NC_000002.11:g.(?_32339687)_(32372347_?)del
NC_000002.11:g.(?_32339707)_(32382706_?)del
NC_000002.11:g.(?_32352007)_(32353558_?)del
NC_000002.11:g.(?_32352007)_(32379575_?)del
NC_000002.11:g.(?_32361612)_(32372347_?)del
NC_000002.11:g.(?_32361622)_(32361717_?)del
NC_000002.11:g.(?_32361622)_(32362267_?)del
NC_000002.11:g.(?_32379433)_(32379575_?)del
NG_008730.1:g.75057_79101dup
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
NM_014946.3(SPAST):c.*1156T>C rs546193636
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.*1231C>T rs886055974
NM_014946.3(SPAST):c.*1231_*1233del rs376420990
NM_014946.3(SPAST):c.*1376A>G rs575900032
NM_014946.3(SPAST):c.*1410T>G rs75645928
NM_014946.3(SPAST):c.*1454G>C rs147052682
NM_014946.3(SPAST):c.*1476A>G rs760307887
NM_014946.3(SPAST):c.*1543_*1544insT rs751815134
NM_014946.3(SPAST):c.*1544G>T rs6709048
NM_014946.3(SPAST):c.*1544dup rs542086083
NM_014946.3(SPAST):c.*1545T>G rs9789593
NM_014946.3(SPAST):c.*157A>C rs886055963
NM_014946.3(SPAST):c.*1604G>A rs192438402
NM_014946.3(SPAST):c.*1777G>A rs886055976
NM_014946.3(SPAST):c.*1783C>T rs886055977
NM_014946.3(SPAST):c.*1829C>T rs886055978
NM_014946.3(SPAST):c.*1858T>G rs573241334
NM_014946.3(SPAST):c.*1962A>G rs187724468
NM_014946.3(SPAST):c.*1963A>G rs192476121
NM_014946.3(SPAST):c.*1969A>T rs533154653
NM_014946.3(SPAST):c.*1995A>G rs540679757
NM_014946.3(SPAST):c.*19C>T rs558483397
NM_014946.3(SPAST):c.*2150G>C rs147721392
NM_014946.3(SPAST):c.*2164_*2165insGAG rs3040810
NM_014946.3(SPAST):c.*2196A>T rs886055979
NM_014946.3(SPAST):c.*2264G>A rs3769602
NM_014946.3(SPAST):c.*2318G>A rs141017850
NM_014946.3(SPAST):c.*2322T>G rs530517245
NM_014946.3(SPAST):c.*2399C>T rs72796869
NM_014946.3(SPAST):c.*2433A>G rs569779105
NM_014946.3(SPAST):c.*244_*247del rs201733642
NM_014946.3(SPAST):c.*2504A>G rs886055980
NM_014946.3(SPAST):c.*256A>G rs6730400
NM_014946.3(SPAST):c.*2583C>T rs138968325
NM_014946.3(SPAST):c.*2589T>G rs149425698
NM_014946.3(SPAST):c.*2658A>T rs886055981
NM_014946.3(SPAST):c.*2779G>A rs886055982
NM_014946.3(SPAST):c.*2898C>T rs886055983
NM_014946.3(SPAST):c.*2904C>T rs534543205
NM_014946.3(SPAST):c.*2987G>C rs770713063
NM_014946.3(SPAST):c.*2999dup rs886055984
NM_014946.3(SPAST):c.*3013T>C rs72796870
NM_014946.3(SPAST):c.*380_*383delTTGT rs756347073
NM_014946.3(SPAST):c.*382G>A rs570596299
NM_014946.3(SPAST):c.*478G>T rs886055966
NM_014946.3(SPAST):c.*494C>T rs886055967
NM_014946.3(SPAST):c.*51A>G rs6730121
NM_014946.3(SPAST):c.*521A>G rs886055968
NM_014946.3(SPAST):c.*533T>G rs886055969
NM_014946.3(SPAST):c.*591A>T rs115996749
NM_014946.3(SPAST):c.*606_*608delTGT rs142605868
NM_014946.3(SPAST):c.*765A>C rs141666739
NM_014946.3(SPAST):c.*815_*828delinsAAC rs886055971
NM_014946.3(SPAST):c.*819C>T rs186529600
NM_014946.3(SPAST):c.*892T>G rs886055972
NM_014946.3(SPAST):c.*98A>G rs56272862
NM_014946.3(SPAST):c.-104_-102del rs886055960
NM_014946.3(SPAST):c.-112_415+1779del
NM_014946.3(SPAST):c.-168G>A rs886055959
NM_014946.3(SPAST):c.-176C>T rs886055958
NM_014946.3(SPAST):c.-220G>T rs886055957
NM_014946.3(SPAST):c.-41C>T rs374327295
NM_014946.3(SPAST):c.-423C>A
NM_014946.3(SPAST):c.-7G>A rs376165443
NM_014946.3(SPAST):c.1004+3_1004+6del rs1553315234
NM_014946.3(SPAST):c.1005-1G>A
NM_014946.3(SPAST):c.1005-5C>A rs377123251
NM_014946.3(SPAST):c.1018_1022del (p.Val339_Lys340insTer) rs1553315321
NM_014946.3(SPAST):c.1027_1031dup (p.Ile344fs) rs1553315323
NM_014946.3(SPAST):c.1031T>A (p.Ile344Lys) rs121908513
NM_014946.3(SPAST):c.1039C>T (p.Gln347Ter) rs1553315329
NM_014946.3(SPAST):c.1048G>A (p.Ala350Thr) rs1553315333
NM_014946.3(SPAST):c.1049C>T (p.Ala350Val) rs1060502231
NM_014946.3(SPAST):c.1056del (p.Ala353fs) rs1553315336
NM_014946.3(SPAST):c.1061T>G (p.Leu354Trp) rs1553315342
NM_014946.3(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.3(SPAST):c.1077T>C (p.Ile359=) rs570106557
NM_014946.3(SPAST):c.1085C>G (p.Ser362Cys) rs121908509
NM_014946.3(SPAST):c.1087C>T (p.Leu363=) rs769858706
NM_014946.3(SPAST):c.1096G>A (p.Glu366Lys) rs1553315356
NM_014946.3(SPAST):c.1098+19C>G
NM_014946.3(SPAST):c.1098+5G>T rs886042914
NM_014946.3(SPAST):c.1103T>C (p.Phe368Ser) rs1553316799
NM_014946.3(SPAST):c.1111C>T (p.Leu371Phe) rs1060499670
NM_014946.3(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.3(SPAST):c.1115G>T (p.Arg372Ile) rs864622327
NM_014946.3(SPAST):c.1116A>C (p.Arg372Ser) rs1425976342
NM_014946.3(SPAST):c.1117del (p.Ala373fs) rs1057518880
NM_014946.3(SPAST):c.1120C>T (p.Pro374Ser) rs1553316810
NM_014946.3(SPAST):c.1121C>T (p.Pro374Leu) rs1471030618
NM_014946.3(SPAST):c.1133T>A (p.Leu378Gln) rs1553316816
NM_014946.3(SPAST):c.1139T>C (p.Leu380Pro) rs1553316819
NM_014946.3(SPAST):c.113C>G (p.Pro38Arg) rs1041662261
NM_014946.3(SPAST):c.1151C>T (p.Pro384Leu)
NM_014946.3(SPAST):c.1157A>G (p.Asn386Ser) rs121908514
NM_014946.3(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.3(SPAST):c.1165A>G (p.Thr389Ala) rs786204132
NM_014946.3(SPAST):c.1167_1168del (p.Met390fs) rs1553316843
NM_014946.3(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.3(SPAST):c.1169T>A (p.Met390Lys) rs1131691977
NM_014946.3(SPAST):c.1169T>C (p.Met390Thr) rs1131691977
NM_014946.3(SPAST):c.1170G>A (p.Met390Ile) rs1131691971
NM_014946.3(SPAST):c.1173+17A>C rs200640366
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.1173+283dup
NM_014946.3(SPAST):c.1174-154G>A
NM_014946.3(SPAST):c.1174-1G>A
NM_014946.3(SPAST):c.1174-208G>A
NM_014946.3(SPAST):c.1174-289T>C
NM_014946.3(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.3(SPAST):c.1196C>G (p.Ser399Trp) rs1553317025
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1206_1208CTT[1] (p.Phe404del) rs1553317028
NM_014946.3(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.3(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.3(SPAST):c.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1217T>C (p.Ile406Thr) rs1553317038
NM_014946.3(SPAST):c.1220G>A (p.Ser407Asn)
NM_014946.3(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.3(SPAST):c.1224dup (p.Ala409fs) rs1558331940
NM_014946.3(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
NM_014946.3(SPAST):c.1232T>C (p.Leu411Ser) rs1558331955
NM_014946.3(SPAST):c.1238C>T (p.Ser413Leu)
NM_014946.3(SPAST):c.1245+1G>A rs875989878
NM_014946.3(SPAST):c.1245+4A>G rs587777755
NM_014946.3(SPAST):c.1245+5G>A rs1553317049
NM_014946.3(SPAST):c.1245del (p.Lys414_Tyr415insTer) rs863224513
NM_014946.3(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.3(SPAST):c.1252G>A (p.Glu418Lys)
NM_014946.3(SPAST):c.1252G>T (p.Glu418Ter) rs1553318164
NM_014946.3(SPAST):c.1253_1255del (p.Glu418del) rs1558336544
NM_014946.3(SPAST):c.1258G>C (p.Glu420Gln) rs1558336551
NM_014946.3(SPAST):c.1261A>G (p.Lys421Glu) rs1558336556
NM_014946.3(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.127G>T (p.Glu43Ter) rs573642949
NM_014946.3(SPAST):c.1284_1285TG[3] (p.Ala430fs) rs1553318177
NM_014946.3(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.3(SPAST):c.1292G>A (p.Arg431Gln) rs748779010
NM_014946.3(SPAST):c.1303C>T (p.Pro435Ser) rs1064796279
NM_014946.3(SPAST):c.1307C>T (p.Ser436Phe) rs1553318184
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1321+9A>G rs201349526
NM_014946.3(SPAST):c.1322-30_1322-2del rs1553318205
NM_014946.3(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.3(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.3(SPAST):c.1334G>A (p.Ser445Asn)
NM_014946.3(SPAST):c.1334G>C (p.Ser445Thr) rs1131691838
NM_014946.3(SPAST):c.1335C>A (p.Ser445Arg) rs121908519
NM_014946.3(SPAST):c.1343G>A (p.Cys448Tyr) rs121908510
NM_014946.3(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_014946.3(SPAST):c.1360G>A (p.Glu454Lys)
NM_014946.3(SPAST):c.1361dup (p.His455fs)
NM_014946.3(SPAST):c.1363C>G (p.His455Asp) rs863224769
NM_014946.3(SPAST):c.1368dup (p.Ala457fs)
NM_014946.3(SPAST):c.1373G>C (p.Ser458Thr) rs562431619
NM_014946.3(SPAST):c.1374T>G (p.Ser458Arg)
NM_014946.3(SPAST):c.1375A>G (p.Arg459Gly) rs1553318238
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1392del (p.Glu464fs) rs1558336906
NM_014946.3(SPAST):c.1395del (p.Phe465_Leu466insTer) rs587777751
NM_014946.3(SPAST):c.1398_1413+1dup rs1558336927
NM_014946.3(SPAST):c.1409A>T (p.Asp470Val) rs121908516
NM_014946.3(SPAST):c.1412G>A (p.Gly471Asp) rs1553318274
NM_014946.3(SPAST):c.1413+1G>T rs1553318276
NM_014946.3(SPAST):c.1413+2dup rs587777756
NM_014946.3(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.3(SPAST):c.1413+5G>A rs1553318282
NM_014946.3(SPAST):c.1413+5G>C rs1553318282
NM_014946.3(SPAST):c.1414-1G>C rs786204163
NM_014946.3(SPAST):c.1417C>T (p.Gln473Ter) rs757130394
NM_014946.3(SPAST):c.1432G>A (p.Asp478Asn) rs1191508807
NM_014946.3(SPAST):c.1435_1436AG[1] (p.Arg479fs) rs864622268
NM_014946.3(SPAST):c.1442_1443insA (p.Val482fs) rs1553318313
NM_014946.3(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.3(SPAST):c.1451G>A (p.Gly484Asp) rs1558337098
NM_014946.3(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.3(SPAST):c.1457C>T (p.Thr486Ile) rs1558337122
NM_014946.3(SPAST):c.1458_1459dup (p.Asn487fs) rs1558337136
NM_014946.3(SPAST):c.1459A>C (p.Asn487His) rs1553318323
NM_014946.3(SPAST):c.1459A>G (p.Asn487Asp) rs1553318323
NM_014946.3(SPAST):c.1462A>T (p.Arg488Trp) rs1553318329
NM_014946.3(SPAST):c.1476_1478TGA[3] (p.Asp493dup) rs1553318338
NM_014946.3(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.3(SPAST):c.1477G>T (p.Asp493Tyr) rs1060499939
NM_014946.3(SPAST):c.1483G>A (p.Ala495Thr) rs1060502228
NM_014946.3(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.3(SPAST):c.1486G>A (p.Val496Ile) rs779662872
NM_014946.3(SPAST):c.1493+18G>T rs189961829
NM_014946.3(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.3(SPAST):c.1493+6G>A rs115659052
NM_014946.3(SPAST):c.1494-1G>C rs1315245986
NM_014946.3(SPAST):c.1494-2A>C rs1218081251
NM_014946.3(SPAST):c.1494-2A>G rs1218081251
NM_014946.3(SPAST):c.1494-3dup rs760322678
NM_014946.3(SPAST):c.1494-5T>G rs1553319072
NM_014946.3(SPAST):c.1494-?_1728+?del
NM_014946.3(SPAST):c.1494G>C (p.Arg498Ser) rs1553319075
NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1501A>C (p.Ile501Leu) rs1057519108
NM_014946.3(SPAST):c.1505A>C (p.Lys502Thr) rs1558339891
NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.3(SPAST):c.1525C>A (p.Pro509Thr) rs1553319092
NM_014946.3(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.3(SPAST):c.1535_1536+1del rs1558339948
NM_014946.3(SPAST):c.1536+17G>T rs201026422
NM_014946.3(SPAST):c.1536+1G>C rs1553319095
NM_014946.3(SPAST):c.1536+2dup
NM_014946.3(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.3(SPAST):c.1537-11A>G
NM_014946.3(SPAST):c.1537A>T (p.Thr513Ser) rs1553319281
NM_014946.3(SPAST):c.156T>A (p.Tyr52Ter) rs1553394497
NM_014946.3(SPAST):c.156T>G (p.Tyr52Ter) rs1553394497
NM_014946.3(SPAST):c.1573C>T (p.Gln525Ter) rs1553319296
NM_014946.3(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.3(SPAST):c.1583del (p.Pro528fs)
NM_014946.3(SPAST):c.1586T>A (p.Leu529Ter) rs1558340832
NM_014946.3(SPAST):c.1593A>G (p.Gln531=) rs754291673
NM_014946.3(SPAST):c.1601del (p.Leu534fs) rs1553319318
NM_014946.3(SPAST):c.1616+1G>C rs1553319327
NM_014946.3(SPAST):c.1617-1G>A rs1553319526
NM_014946.3(SPAST):c.1617-3C>T rs201212542
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1634C>G (p.Ser545Ter) rs869312949
NM_014946.3(SPAST):c.1637G>A (p.Gly546Glu) rs786204057
NM_014946.3(SPAST):c.1649C>T (p.Thr550Ile) rs1553319537
NM_014946.3(SPAST):c.1666G>A (p.Ala556Thr) rs1558341948
NM_014946.3(SPAST):c.1666G>C (p.Ala556Pro) rs1558341948
NM_014946.3(SPAST):c.166_175del (p.Tyr55_Pro56insTer) rs1553394509
NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) rs1057518873
NM_014946.3(SPAST):c.1675G>C (p.Gly559Arg) rs878854992
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1684C>G (p.Arg562Gly) rs121908518
NM_014946.3(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_014946.3(SPAST):c.1687+268C>T
NM_014946.3(SPAST):c.1688-1G>A
NM_014946.3(SPAST):c.1688-2A>G rs587777752
NM_014946.3(SPAST):c.1688-378_1728+1541del
NM_014946.3(SPAST):c.1714A>G (p.Met572Val) rs1131691684
NM_014946.3(SPAST):c.171G>C (p.Leu57=) rs1057523187
NM_014946.3(SPAST):c.1728+16A>G rs76494041
NM_014946.3(SPAST):c.1728+1G>A
NM_014946.3(SPAST):c.1728+1G>C rs587777754
NM_014946.3(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.3(SPAST):c.1729-1G>A rs1064793976
NM_014946.3(SPAST):c.1729-2A>G rs1553321194
NM_014946.3(SPAST):c.1729-884_*1715del
NM_014946.3(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.3(SPAST):c.1735A>C (p.Asn579His) rs144594804
NM_014946.3(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_014946.3(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.3(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.3(SPAST):c.1775_1778del (p.Ile592fs) rs1553321232
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.3(SPAST):c.179G>A (p.Gly60Asp) rs1558605758
NM_014946.3(SPAST):c.1805A>C (p.Glu602Ala)
NM_014946.3(SPAST):c.1813A>G (p.Ile605Val) rs372900676
NM_014946.3(SPAST):c.1815dup (p.Arg606fs) rs1553321261
NM_014946.3(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro) rs1558605777
NM_014946.3(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.3(SPAST):c.232C>G (p.Leu78Val) rs1558605868
NM_014946.3(SPAST):c.244T>C (p.Phe82Leu) rs1558605895
NM_014946.3(SPAST):c.277T>C (p.Ser93Pro) rs1156801351
NM_014946.3(SPAST):c.280G>A (p.Gly94Arg)
NM_014946.3(SPAST):c.286del (p.Ala96fs)
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.312_317dup (p.104_105AP[3]) rs747993450
NM_014946.3(SPAST):c.320C>T (p.Pro107Leu)
NM_014946.3(SPAST):c.327G>C (p.Pro109=) rs1033468634
NM_014946.3(SPAST):c.328_340del (p.Gly110fs) rs1410418105
NM_014946.3(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.3(SPAST):c.344_353dup (p.Phe119fs) rs1558606204
NM_014946.3(SPAST):c.363del (p.Lys121fs) rs1553394622
NM_014946.3(SPAST):c.390_391delinsGGT (p.Leu131fs) rs1060502230
NM_014946.3(SPAST):c.410del (p.Glu137fs) rs1060502229
NM_014946.3(SPAST):c.415+12G>A rs539075273
NM_014946.3(SPAST):c.415+17G>T rs748969302
NM_014946.3(SPAST):c.415+1G>T rs1057521135
NM_014946.3(SPAST):c.416-240A>G
NM_014946.3(SPAST):c.421C>T (p.Gln141Ter) rs1485703744
NM_014946.3(SPAST):c.422_425del (p.Gln141fs) rs1553399472
NM_014946.3(SPAST):c.443G>A (p.Trp148Ter)
NM_014946.3(SPAST):c.444G>A (p.Trp148Ter) rs1553399493
NM_014946.3(SPAST):c.453dup (p.Gly152fs) rs587777753
NM_014946.3(SPAST):c.465del (p.Glu155fs) rs863224514
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.3(SPAST):c.511T>C (p.Cys171Arg) rs746073001
NM_014946.3(SPAST):c.55C>T (p.Pro19Ser) rs372349942
NM_014946.3(SPAST):c.562del (p.Ala188fs) rs1553400002
NM_014946.3(SPAST):c.571del (p.Arg191fs) rs1057517974
NM_014946.3(SPAST):c.586+9_586+12del rs554544808
NM_014946.3(SPAST):c.631G>A (p.Val211Ile)
NM_014946.3(SPAST):c.644G>A (p.Ser215Asn) rs774722817
NM_014946.3(SPAST):c.683-1277_870+399del
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.68G>A (p.Arg23Lys)
NM_014946.3(SPAST):c.698del (p.Pro233fs)
NM_014946.3(SPAST):c.6_7del (p.Pro4fs) rs1553394366
NM_014946.3(SPAST):c.718_719AC[3] (p.His241_Thr242insTer) rs1558323426
NM_014946.3(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.3(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.3(SPAST):c.782C>A (p.Ser261Ter) rs768241184
NM_014946.3(SPAST):c.816A>G (p.Leu272=) rs1239753392
NM_014946.3(SPAST):c.828T>C (p.Ser276=) rs77525846
NM_014946.3(SPAST):c.832G>A (p.Val278Met) rs369908571
NM_014946.3(SPAST):c.838C>T (p.Gln280Ter) rs1553314948
NM_014946.3(SPAST):c.839dup (p.Ser282fs) rs1558323598
NM_014946.3(SPAST):c.841G>T (p.Gly281Ter) rs1553314951
NM_014946.3(SPAST):c.865C>T (p.His289Tyr) rs74688377
NM_014946.3(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.3(SPAST):c.870+1G>A rs1553314978
NM_014946.3(SPAST):c.870+283C>T
NM_014946.3(SPAST):c.870+60A>C
NM_014946.3(SPAST):c.870G>A (p.Lys290=) rs1421791559
NM_014946.3(SPAST):c.871-12G>A rs764275621
NM_014946.3(SPAST):c.871-1G>C rs1057524526
NM_014946.3(SPAST):c.871-289C>G
NM_014946.3(SPAST):c.871-2A>T rs1553315169
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_014946.3(SPAST):c.883dup (p.Thr295fs) rs1553315181
NM_014946.3(SPAST):c.89C>T (p.Ala30Val)
NM_014946.3(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.3(SPAST):c.925del (p.Arg309fs) rs863224515
NM_014946.3(SPAST):c.942G>A (p.Leu314=) rs776121105
NM_014946.3(SPAST):c.962_974del (p.Asp321fs) rs1553315223
NM_014946.3(SPAST):c.987G>A (p.Met329Ile) rs1553315231
NM_014946.3(SPAST):c.98C>T (p.Pro33Leu) rs777721232
SPAST, LYS229TER
Single allele

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