ClinVar Miner

List of variants in gene SPAST reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.-41C>T rs374327295
NM_014946.3(SPAST):c.-423C>A
NM_014946.3(SPAST):c.1056del (p.Ala353fs) rs1553315336
NM_014946.3(SPAST):c.1077T>C (p.Ile359=) rs570106557
NM_014946.3(SPAST):c.1087C>T (p.Leu363=) rs769858706
NM_014946.3(SPAST):c.1098+19C>G
NM_014946.3(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.3(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
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+17A>C rs200640366
NM_014946.3(SPAST):c.1173+283dup
NM_014946.3(SPAST):c.1174-154G>A
NM_014946.3(SPAST):c.1174-208G>A
NM_014946.3(SPAST):c.1174-289T>C
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
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+9A>G rs201349526
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.1373G>C (p.Ser458Thr) rs562431619
NM_014946.3(SPAST):c.1413+1G>T rs1553318276
NM_014946.3(SPAST):c.1493+18G>T rs189961829
NM_014946.3(SPAST):c.1493+6G>A rs115659052
NM_014946.3(SPAST):c.1494-5T>G rs1553319072
NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.3(SPAST):c.1536+17G>T rs201026422
NM_014946.3(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.3(SPAST):c.1617-3C>T rs201212542
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.1687+268C>T
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.1729-1G>A rs1064793976
NM_014946.3(SPAST):c.1735A>C (p.Asn579His) rs144594804
NM_014946.3(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.3(SPAST):c.1815dup (p.Arg606fs) rs1553321261
NM_014946.3(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.3(SPAST):c.289C>A (p.Pro97Thr) rs372005558
NM_014946.3(SPAST):c.327G>C (p.Pro109=) rs1033468634
NM_014946.3(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
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.484G>A (p.Val162Ile) rs141944844
NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.3(SPAST):c.571del (p.Arg191fs) rs1057517974
NM_014946.3(SPAST):c.683-9C>T rs202209866
NM_014946.3(SPAST):c.68G>A (p.Arg23Lys)
NM_014946.3(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.3(SPAST):c.816A>G (p.Leu272=) rs1239753392
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.870+283C>T
NM_014946.3(SPAST):c.870+60A>C
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.879G>A (p.Pro293=) rs145264166
NM_014946.3(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_014946.3(SPAST):c.942G>A (p.Leu314=) rs776121105
NM_014946.3(SPAST):c.98C>T (p.Pro33Leu) rs777721232
NM_199436.1(SPAST):c.1380_1382TGA[3] (p.Asp461dup) rs1553318338

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