ClinVar Miner

List of variants in gene SPAST reported as likely pathogenic for not provided

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val) rs1259072587 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_014946.4(SPAST):c.1036G>C (p.Gly346Arg)
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro) rs1678825469
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.4(SPAST):c.1088_1089insAT (p.Leu363_Arg364insTer) rs2148734605
NM_014946.4(SPAST):c.1094C>G (p.Pro365Arg) rs1678828583
NM_014946.4(SPAST):c.1111C>G (p.Leu371Val) rs1060499670
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.4(SPAST):c.1153G>T (p.Gly385Trp) rs2148745015
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.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
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.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.4(SPAST):c.1209del (p.Phe404fs) rs1057520127
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del) rs1679265391
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1235C>T (p.Thr412Ile)
NM_014946.4(SPAST):c.1242del (p.Lys414fs) rs1573142681
NM_014946.4(SPAST):c.1245+4A>G rs587777755
NM_014946.4(SPAST):c.1250G>C (p.Gly417Ala) rs1553318161
NM_014946.4(SPAST):c.1303C>T (p.Pro435Ser) rs1064796279
NM_014946.4(SPAST):c.1321G>T (p.Asp441Tyr) rs1553318188
NM_014946.4(SPAST):c.1334G>C (p.Ser445Thr) rs1131691838
NM_014946.4(SPAST):c.1376G>A (p.Arg459Lys) rs1553318240
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1386A>C (p.Lys462Asn) rs1573156433
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.1411G>A (p.Gly471Ser) rs1679558360
NM_014946.4(SPAST):c.1413+6T>C rs1553318284
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1476TGA[3] (p.Asp493dup) rs1553318338
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly) rs1553318350
NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)
NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr) rs2148754411
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.4(SPAST):c.1537-1G>T rs1553319280
NM_014946.4(SPAST):c.1670C>T (p.Ala557Val) rs1057518873
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg) rs878854992
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.1710G>T (p.Lys570Asn)
NM_014946.4(SPAST):c.1714A>G (p.Met572Val) rs1131691684
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
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.1775_1778del (p.Ile592fs) rs1553321232
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.1815dup (p.Arg606fs) rs1553321261
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.4(SPAST):c.363del (p.Lys121fs) rs1553394622
NM_014946.4(SPAST):c.405_409dup (p.Glu137fs) rs1676417081
NM_014946.4(SPAST):c.55C>G (p.Pro19Ala)
NM_014946.4(SPAST):c.866_870del (p.His289fs) rs1678765220
NM_014946.4(SPAST):c.897_900del (p.Lys300fs)
NM_014946.4(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.4(SPAST):c.924dup (p.Arg309fs) rs1678805865
NM_014946.4(SPAST):c.943A>T (p.Lys315Ter) rs1573120705
NM_014946.4(SPAST):c.962_974del (p.Asp321fs) rs1553315223
Single allele

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