ClinVar Miner

List of variants in gene SPAST reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1174-289T>C rs216540 0.99008
NM_014946.4(SPAST):c.871-289C>G rs6543650 0.97619
NM_014946.4(SPAST):c.1617-105T>C rs2365556 0.96588
NM_014946.4(SPAST):c.503-118A>T rs469305 0.43127
NM_014946.4(SPAST):c.682+175G>A rs7605242 0.41614
NM_014946.4(SPAST):c.1098+118A>G rs12617289 0.41298
NM_014946.4(SPAST):c.682+112T>C rs7566162 0.40879
NM_014946.4(SPAST):c.1098+127A>G rs12617290 0.39919
NM_014946.4(SPAST):c.1687+268C>T rs7592356 0.36684
NM_014946.4(SPAST):c.1246-150_1246-149insC rs11392886 0.36485
NM_014946.4(SPAST):c.1688-191A>T rs7572964 0.35855
NM_014946.4(SPAST):c.1174-161G>A rs2294176 0.35723
NM_014946.4(SPAST):c.1687+182C>A rs7592239 0.34998
NM_014946.4(SPAST):c.683-146C>T rs11691939 0.26750
NM_014946.4(SPAST):c.1174-153A>C rs2294178 0.26640
NM_014946.4(SPAST):c.*98A>G rs56272862 0.04503
NM_014946.4(SPAST):c.870+122A>G rs72796859 0.03345
NM_014946.4(SPAST):c.1174-154G>A rs2294177 0.03210
NM_014946.4(SPAST):c.416-268A>T rs79943597 0.02398
NM_014946.4(SPAST):c.1617-253G>A rs143261316 0.01343
NM_014946.4(SPAST):c.*256A>G rs6730400 0.01284
NM_014946.4(SPAST):c.1173+283dup rs201829595 0.01233
NM_014946.4(SPAST):c.503-117A>T rs190989715 0.01035
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_014946.4(SPAST):c.416-240A>G rs150788361 0.00887
NM_014946.4(SPAST):c.*51A>G rs6730121 0.00739
NM_014946.4(SPAST):c.1616+220T>C rs113051245 0.00737
NM_014946.4(SPAST):c.1728+16A>G rs76494041 0.00731
NM_014946.4(SPAST):c.1536+266A>G rs190377752 0.00695
NM_014946.4(SPAST):c.1174-208G>A rs140628991 0.00629
NM_014946.4(SPAST):c.1005-128C>T rs191664951 0.00555
NC_000002.12:g.32063480G>C rs182965072 0.00554
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_014946.4(SPAST):c.416-153C>T rs79059251 0.00447
NM_014946.4(SPAST):c.870+60A>C rs192431122 0.00271
NM_014946.4(SPAST):c.1493+18G>T rs189961829 0.00213
NM_014946.4(SPAST):c.865C>T (p.His289Tyr) rs74688377 0.00210
NM_014946.4(SPAST):c.1687+29G>C rs112410719 0.00204
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_014946.4(SPAST):c.415+12G>A rs539075273 0.00115
NM_014946.4(SPAST):c.1173+17A>C rs200640366 0.00092
NM_014946.4(SPAST):c.-41C>T rs374327295 0.00078
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_014946.4(SPAST):c.683-9C>T rs202209866 0.00056
NM_014946.4(SPAST):c.243C>G (p.Arg81=) rs146956762 0.00047
NM_014946.4(SPAST):c.1493+6G>A rs115659052 0.00046
NM_014946.4(SPAST):c.1362G>A (p.Glu454=) rs138849656 0.00035
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr) rs372005558 0.00029
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_014946.4(SPAST):c.1617-3C>T rs201212542 0.00018
NM_014946.4(SPAST):c.1536+17G>T rs201026422 0.00017
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr) rs140094231 0.00009
NM_014946.4(SPAST):c.415+17G>T rs748969302 0.00005
NM_014946.4(SPAST):c.942G>A (p.Leu314=) rs776121105 0.00005
NM_014946.4(SPAST):c.965G>A (p.Ser322Asn) rs200329686 0.00005
NM_014946.4(SPAST):c.*11T>C rs753913367 0.00002
NM_014946.4(SPAST):c.1077T>C (p.Ile359=) rs570106557 0.00002
NM_014946.4(SPAST):c.1087C>T (p.Leu363=) rs769858706 0.00001
NM_014946.4(SPAST):c.1181C>T (p.Ala394Val) rs1189374970 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1292G>A (p.Arg431Gln) rs748779010 0.00001
NM_014946.4(SPAST):c.1321+9A>G rs201349526 0.00001
NM_014946.4(SPAST):c.1373G>C (p.Ser458Thr) rs562431619 0.00001
NM_014946.4(SPAST):c.1624G>A (p.Asp542Asn) rs780404151 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014946.4(SPAST):c.171G>C (p.Leu57=) rs1057523187 0.00001
NM_014946.4(SPAST):c.679T>G (p.Ser227Ala) rs762126088 0.00001
NM_014946.4(SPAST):c.742C>T (p.Arg248Cys) rs757176714 0.00001
NM_014946.4(SPAST):c.782C>T (p.Ser261Leu) rs768241184 0.00001
NM_014946.4(SPAST):c.816A>G (p.Leu272=) rs1239753392 0.00001
NM_014946.4(SPAST):c.98C>T (p.Pro33Leu) rs777721232 0.00001
NM_014946.4(SPAST):c.*244_*247del rs201733642
NM_014946.4(SPAST):c.-4G>A
NM_014946.4(SPAST):c.1005-5C>A rs377123251
NM_014946.4(SPAST):c.1037G>A (p.Gly346Asp) rs1573121594
NM_014946.4(SPAST):c.1056del (p.Ala353fs) rs1553315336
NM_014946.4(SPAST):c.1061T>C (p.Leu354Ser) rs1553315342
NM_014946.4(SPAST):c.1098+19C>G rs1573121844
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.4(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.4(SPAST):c.1169T>C (p.Met390Thr) rs1131691977
NM_014946.4(SPAST):c.1170G>A (p.Met390Ile) rs1131691971
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1212_1215delinsAAAA (p.Phe404_Asn405delinsLeuLys)
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn) rs1573142616
NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
NM_014946.4(SPAST):c.1245+4A>G rs587777755
NM_014946.4(SPAST):c.124C>A (p.Pro42Thr)
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val) rs1553318161
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys) rs1553318164
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1303C>T (p.Pro435Ser) rs1064796279
NM_014946.4(SPAST):c.1322-1G>A rs1365753930
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.4(SPAST):c.1334G>C (p.Ser445Thr) rs1131691838
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn) rs1330471269
NM_014946.4(SPAST):c.1376G>A (p.Arg459Lys) rs1553318240
NM_014946.4(SPAST):c.1385A>T (p.Lys462Ile)
NM_014946.4(SPAST):c.1391A>G (p.Glu464Gly) rs1553318251
NM_014946.4(SPAST):c.1394_1400dup (p.Glu468fs) rs2148754064
NM_014946.4(SPAST):c.1413+1G>T rs1553318276
NM_014946.4(SPAST):c.1413+43TA[4] rs10627985
NM_014946.4(SPAST):c.1413+6T>C rs1553318284
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1454_1463del (p.Ala485fs) rs1573157000
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.4(SPAST):c.1460A>G (p.Asn487Ser) rs2148754345
NM_014946.4(SPAST):c.1476TGA[3] (p.Asp493dup) rs1553318338
NM_014946.4(SPAST):c.1487T>G (p.Val496Gly) rs867575128
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly) rs1553318350
NM_014946.4(SPAST):c.1494-5T>G rs1553319072
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1501A>C (p.Ile501Leu) rs1057519108
NM_014946.4(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1688-10T>C rs2148762754
NM_014946.4(SPAST):c.1714A>G (p.Met572Val) rs1131691684
NM_014946.4(SPAST):c.1728+1G>A rs587777754
NM_014946.4(SPAST):c.1728+73TG[6] rs151273719
NM_014946.4(SPAST):c.1729-1G>A rs1064793976
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter) rs778023258
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.179G>A (p.Gly60Asp) rs1558605758
NM_014946.4(SPAST):c.1815dup (p.Arg606fs) rs1553321261
NM_014946.4(SPAST):c.183C>G (p.Phe61Leu)
NM_014946.4(SPAST):c.194G>A (p.Arg65His)
NM_014946.4(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.4(SPAST):c.29A>G (p.Lys10Arg) rs2148685090
NM_014946.4(SPAST):c.327G>C (p.Pro109=) rs1033468634
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.415+1G>T rs1057521135
NM_014946.4(SPAST):c.416-31C>G rs79533492
NM_014946.4(SPAST):c.416-66C>A rs420731
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu) rs763649847
NM_014946.4(SPAST):c.486dup (p.Ile163fs) rs2148708928
NM_014946.4(SPAST):c.496G>T (p.Gly166Ter)
NM_014946.4(SPAST):c.502+284ATT[11] rs34216464
NM_014946.4(SPAST):c.502+284ATT[9] rs34216464
NM_014946.4(SPAST):c.502+53T>C rs7561519
NM_014946.4(SPAST):c.502+70TATT[6] rs202142071
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.4(SPAST):c.571del (p.Arg191fs) rs1057517974
NM_014946.4(SPAST):c.586+9_586+12del rs554544808
NM_014946.4(SPAST):c.664A>G (p.Asn222Asp) rs1354823029
NM_014946.4(SPAST):c.682+5G>T
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys) rs558882317
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.4(SPAST):c.841G>T (p.Gly281Ter) rs1553314951
NM_014946.4(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.4(SPAST):c.870+131_870+132insT rs1448818175
NM_014946.4(SPAST):c.870+149_870+150dup rs11399176
NM_014946.4(SPAST):c.870+150dup rs11399176
NM_014946.4(SPAST):c.870+283C>T rs35245684
NM_014946.4(SPAST):c.871-12G>A rs764275621
NM_014946.4(SPAST):c.871-1G>C rs1057524526
NM_014946.4(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.4(SPAST):c.918T>C (p.Thr306=)
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys) rs759832933

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