ClinVar Miner

List of variants in gene SPAST studied for not provided

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP
GRCh37/hg19 2p22.3(chr2:32375334-32389646)x3
NM_014946.3(SPAST):c.-423C>A rs12994869
NM_014946.3(SPAST):c.1027_1031dup (p.Ile344fs) rs1553315323
NM_014946.3(SPAST):c.1039C>T (p.Gln347Ter) rs1553315329
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.1096G>A (p.Glu366Lys) rs1553315356
NM_014946.3(SPAST):c.1098+19C>G rs1573121844
NM_014946.3(SPAST):c.1098+5G>T rs886042914
NM_014946.3(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.3(SPAST):c.1125C>T (p.Ala375=) rs62142114
NM_014946.3(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
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>C (p.Met390Thr) rs1131691977
NM_014946.3(SPAST):c.1170G>A (p.Met390Ile) rs1131691971
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.1173+283dup rs201829595
NM_014946.3(SPAST):c.1174-154G>A rs2294177
NM_014946.3(SPAST):c.1174-1G>C rs1553317024
NM_014946.3(SPAST):c.1174-1del rs1573142475
NM_014946.3(SPAST):c.1174-208G>A rs140628991
NM_014946.3(SPAST):c.1174-289T>C rs216540
NM_014946.3(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1197G>A (p.Ser399=) rs1037572037
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.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.1245+1G>A rs875989878
NM_014946.3(SPAST):c.1245+5G>A rs1553317049
NM_014946.3(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.3(SPAST):c.1253_1255del (p.Glu418del) rs1558336544
NM_014946.3(SPAST):c.126C>G (p.Pro42=) rs755151658
NM_014946.3(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
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.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1321+8C>T rs1573155852
NM_014946.3(SPAST):c.1322-30_1322-2del rs1553318205
NM_014946.3(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.3(SPAST):c.1334G>C (p.Ser445Thr) rs1131691838
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_014946.3(SPAST):c.1359_1360dup (p.Glu454fs) rs1384312757
NM_014946.3(SPAST):c.1373G>C (p.Ser458Thr) rs562431619
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1386A>C (p.Lys462Asn) rs1573156433
NM_014946.3(SPAST):c.1397T>C (p.Leu466Pro) rs1573156486
NM_014946.3(SPAST):c.1398A>G (p.Leu466=) rs778593317
NM_014946.3(SPAST):c.1399A>G (p.Ile467Val) rs1573156509
NM_014946.3(SPAST):c.1413+1G>A rs1553318276
NM_014946.3(SPAST):c.1413+1G>T rs1553318276
NM_014946.3(SPAST):c.1413+5G>A rs1553318282
NM_014946.3(SPAST):c.1486G>A (p.Val496Ile) rs779662872
NM_014946.3(SPAST):c.1494-2A>C rs1218081251
NM_014946.3(SPAST):c.1494-5T>G rs1553319072
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.1507C>T (p.Arg503Trp) rs864622162
NM_014946.3(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.3(SPAST):c.1536+1G>C rs1553319095
NM_014946.3(SPAST):c.156T>A (p.Tyr52Ter) rs1553394497
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.1617-2A>G rs1553319524
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
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 rs7592356
NM_014946.3(SPAST):c.1688-2A>G rs587777752
NM_014946.3(SPAST):c.1714A>G (p.Met572Val) rs1131691684
NM_014946.3(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.3(SPAST):c.1729-1G>A rs1064793976
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.174T>C (p.Phe58=) rs145571171
NM_014946.3(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
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.1815dup (p.Arg606fs) rs1553321261
NM_014946.3(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.3(SPAST):c.222C>T (p.Leu74=) rs372332499
NM_014946.3(SPAST):c.234C>G (p.Leu78=) rs1218904926
NM_014946.3(SPAST):c.243C>G (p.Arg81=) rs146956762
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.324G>C (p.Val108=) rs750637923
NM_014946.3(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.3(SPAST):c.363del (p.Lys121fs) rs1553394622
NM_014946.3(SPAST):c.364C>T (p.Gln122Ter) rs1233469782
NM_014946.3(SPAST):c.391C>T (p.Leu131=) rs1440932106
NM_014946.3(SPAST):c.415+1G>T rs1057521135
NM_014946.3(SPAST):c.416-240A>G rs150788361
NM_014946.3(SPAST):c.441A>G (p.Glu147=) rs375027118
NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.3(SPAST):c.571del (p.Arg191fs) rs1057517974
NM_014946.3(SPAST):c.586+9_586+12del rs554544808
NM_014946.3(SPAST):c.630C>T (p.Asp210=) rs150444792
NM_014946.3(SPAST):c.68G>A (p.Arg23Lys) rs558882317
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.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.867_868del (p.His289fs) rs1558323659
NM_014946.3(SPAST):c.870+283C>T rs35245684
NM_014946.3(SPAST):c.870+60A>C rs192431122
NM_014946.3(SPAST):c.871-1G>C rs1057524526
NM_014946.3(SPAST):c.871-289C>G rs6543650
NM_014946.3(SPAST):c.871-2A>T rs1553315169
NM_014946.3(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.3(SPAST):c.943A>T (p.Lys315Ter) rs1573120705
NM_014946.3(SPAST):c.962_974del (p.Asp321fs) rs1553315223
NM_014946.3(SPAST):c.96C>G (p.Ala32=) rs200837566
NM_014946.3(SPAST):c.98C>T (p.Pro33Leu) rs777721232
NM_014946.4(SPAST):c.1082C>T (p.Pro361Leu)
NM_014946.4(SPAST):c.1097A>T (p.Glu366Val)
NM_014946.4(SPAST):c.1104C>G (p.Phe368Leu)
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
NM_014946.4(SPAST):c.1242del (p.Lys414fs) rs1573142681
NM_014946.4(SPAST):c.1262_1263del (p.Lys421fs)
NM_014946.4(SPAST):c.1454_1463del (p.Ala485fs) rs1573157000
NM_014946.4(SPAST):c.1536+5G>T
NM_014946.4(SPAST):c.1540A>G (p.Arg514Gly)
NM_014946.4(SPAST):c.1670C>T (p.Ala557Val) rs1057518873
NM_014946.4(SPAST):c.1688-4A>C rs1573174134
NM_014946.4(SPAST):c.647C>G (p.Thr216Ser)
NM_014946.4(SPAST):c.683-1G>C
NM_014946.4(SPAST):c.716T>G (p.Leu239Ter)
NM_014946.4(SPAST):c.876T>C (p.Thr292=) rs1573120364
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_199436.1(SPAST):c.1113_1116del (p.Phe371fs) rs1553317029
NM_199436.1(SPAST):c.1149del (p.Lys382_Tyr383insTer) rs863224513
NM_199436.1(SPAST):c.1188_1189TG[3] (p.Ala398fs) rs1553318177
NM_199436.1(SPAST):c.1380_1382TGA[3] (p.Asp461dup) rs1553318338
NM_199436.1(SPAST):c.465del (p.Glu155fs) rs863224514

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