ClinVar Miner

List of variants in gene SPAST studied for not provided

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Gene type:
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Total variants: 86
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HGVS dbSNP
GRCh37/hg19 2p22.3(chr2:32375334-32389646)x3
NM_014946.3(SPAST):c.1027_1031dup (p.Ile344Metfs) rs1553315323
NM_014946.3(SPAST):c.1056delA (p.Ala353Hisfs) rs1553315336
NM_014946.3(SPAST):c.1061T>G (p.Leu354Trp)
NM_014946.3(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.3(SPAST):c.1096G>A (p.Glu366Lys)
NM_014946.3(SPAST):c.1098+5G>T rs886042914
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.1167_1168del (p.Met390Alafs) 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.1174G>C (p.Ala392Pro)
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1209_1212delCTTT (p.Phe403Leufs) rs1553317029
NM_014946.3(SPAST):c.1209del (p.Phe404Leufs) rs1057520127
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1223C>T (p.Ala408Val)
NM_014946.3(SPAST):c.1224dup (p.Ala409Cysfs)
NM_014946.3(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
NM_014946.3(SPAST):c.1245+5G>A rs1553317049
NM_014946.3(SPAST):c.1245delC (p.Tyr415Terfs) rs863224513
NM_014946.3(SPAST):c.1247T>C (p.Val416Ala)
NM_014946.3(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.3(SPAST):c.1286_1287dup (p.Ala430Trpfs) 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.131C>T (p.Ser44Leu) rs121908515
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.1373G>C (p.Ser458Thr) rs562431619
NM_014946.3(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.3(SPAST):c.1413+1G>T rs1553318276
NM_014946.3(SPAST):c.1413+5G>A
NM_014946.3(SPAST):c.1479_1481dupTGA (p.Asp493_Glu494insAsp) rs1553318338
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)
NM_014946.3(SPAST):c.1586T>A (p.Leu529Ter)
NM_014946.3(SPAST):c.1601del (p.Leu534Glnfs) rs1553319318
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.1714A>G (p.Met572Val) rs1131691684
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.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.3(SPAST):c.1772_1775delAAAT (p.Ile592Asnfs) rs1553321232
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.3(SPAST):c.1815dupA (p.Arg606Thrfs) rs1553321261
NM_014946.3(SPAST):c.19C>A (p.Arg7=) rs779449573
NM_014946.3(SPAST):c.244T>C (p.Phe82Leu)
NM_014946.3(SPAST):c.277T>C (p.Ser93Pro)
NM_014946.3(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.3(SPAST):c.363del (p.Lys121Asnfs) rs1553394622
NM_014946.3(SPAST):c.415+1G>T rs1057521135
NM_014946.3(SPAST):c.465delA (p.Glu155Aspfs) rs863224514
NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.3(SPAST):c.571delC (p.Arg191Alafs) rs1057517974
NM_014946.3(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.3(SPAST):c.746C>G (p.Ser249Ter)
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.Ser282Ilefs)
NM_014946.3(SPAST):c.841G>T (p.Gly281Ter) rs1553314951
NM_014946.3(SPAST):c.867_868del (p.His289Glnfs)
NM_014946.3(SPAST):c.871-1G>C rs1057524526
NM_014946.3(SPAST):c.871-2A>T rs1553315169
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_014946.3(SPAST):c.911dupC (p.Thr305Tyrfs) rs1553315188
NM_014946.3(SPAST):c.962_974del (p.Asp321Valfs) rs1553315223
NM_014946.3(SPAST):c.98C>T (p.Pro33Leu) rs777721232

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