ClinVar Miner

List of variants in gene SPAST reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1617-3C>T rs201212542 0.00018
NM_014946.4(SPAST):c.926G>A (p.Arg309His) rs202152835 0.00013
NM_014946.4(SPAST):c.661C>T (p.Arg221Cys) rs371848866 0.00011
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr) rs140094231 0.00009
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys) rs776114823 0.00006
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val) rs368801051 0.00004
NM_014946.4(SPAST):c.101C>T (p.Pro34Leu) rs771019519 0.00002
NM_014946.4(SPAST):c.1742G>A (p.Arg581Gln) rs749484350 0.00002
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val) rs372900676 0.00002
NM_014946.4(SPAST):c.315G>A (p.Pro105=) rs761254257 0.00002
NM_014946.4(SPAST):c.631G>A (p.Val211Ile) rs143003434 0.00002
NM_014946.4(SPAST):c.113C>G (p.Pro38Arg) rs1041662261 0.00001
NM_014946.4(SPAST):c.1805A>C (p.Glu602Ala) rs776152816 0.00001
NM_014946.4(SPAST):c.1817G>A (p.Arg606His) rs768077366 0.00001
NM_014946.4(SPAST):c.20G>C (p.Arg7Pro) rs750900931 0.00001
NM_014946.4(SPAST):c.280G>C (p.Gly94Arg) rs750218565 0.00001
NM_014946.4(SPAST):c.555G>C (p.Leu185Phe) rs377698691 0.00001
NM_014946.4(SPAST):c.626C>T (p.Thr209Met) rs537855621 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.743G>A (p.Arg248His) rs201395991 0.00001
NM_014946.4(SPAST):c.80C>T (p.Pro27Leu) rs1361493550 0.00001
NM_014946.4(SPAST):c.935A>C (p.Lys312Thr) rs540279272 0.00001
NM_014946.4(SPAST):c.97C>G (p.Pro33Ala) rs1403480959 0.00001
NM_014946.4(SPAST):c.98C>T (p.Pro33Leu) rs777721232 0.00001
NC_000002.11:g.(?_32288901)_(32289335_?)dup
NC_000002.11:g.(?_32288901)_(32339914_?)dup
NC_000002.11:g.(?_32288901)_(32362277_?)dup
NC_000002.11:g.(?_32352007)_(32353558_?)dup
NC_000002.11:g.(?_32379423)_(32379565_?)dup
NM_014946.4(SPAST):c.1003A>C (p.Asn335His)
NM_014946.4(SPAST):c.1004+5G>C
NM_014946.4(SPAST):c.1016T>C (p.Val339Ala)
NM_014946.4(SPAST):c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)
NM_014946.4(SPAST):c.1033G>C (p.Ala345Pro)
NM_014946.4(SPAST):c.1047G>T (p.Leu349Phe)
NM_014946.4(SPAST):c.1048G>A (p.Ala350Thr) rs1553315333
NM_014946.4(SPAST):c.1048G>T (p.Ala350Ser)
NM_014946.4(SPAST):c.1049C>T (p.Ala350Val) rs1060502231
NM_014946.4(SPAST):c.1099-17A>C
NM_014946.4(SPAST):c.10C>T (p.Pro4Ser) rs937319046
NM_014946.4(SPAST):c.1108G>T (p.Gly370Trp) rs2148744904
NM_014946.4(SPAST):c.1115G>T (p.Arg372Ile) rs864622327
NM_014946.4(SPAST):c.1117G>C (p.Ala373Pro) rs1679214464
NM_014946.4(SPAST):c.1129G>C (p.Gly377Arg) rs1679215171
NM_014946.4(SPAST):c.113C>T (p.Pro38Leu) rs1041662261
NM_014946.4(SPAST):c.1141T>G (p.Phe381Val) rs1553316821
NM_014946.4(SPAST):c.1144G>T (p.Gly382Cys)
NM_014946.4(SPAST):c.1145G>C (p.Gly382Ala) rs2148744995
NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)
NM_014946.4(SPAST):c.1173+2dup
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.1186G>C (p.Ala396Pro)
NM_014946.4(SPAST):c.11C>G (p.Pro4Arg)
NM_014946.4(SPAST):c.120_121delinsAA (p.Pro41Thr)
NM_014946.4(SPAST):c.1211T>C (p.Phe404Ser) rs1679265515
NM_014946.4(SPAST):c.1217T>C (p.Ile406Thr) rs1553317038
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.4(SPAST):c.1228A>C (p.Ser410Arg) rs1679266894
NM_014946.4(SPAST):c.1229G>T (p.Ser410Ile)
NM_014946.4(SPAST):c.1237T>A (p.Ser413Thr) rs1679267183
NM_014946.4(SPAST):c.1240A>C (p.Lys414Gln)
NM_014946.4(SPAST):c.1245+2_1245+4dup
NM_014946.4(SPAST):c.1246G>A (p.Val416Met)
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.4(SPAST):c.124C>G (p.Pro42Ala)
NM_014946.4(SPAST):c.1255G>A (p.Gly419Arg)
NM_014946.4(SPAST):c.1256G>T (p.Gly419Val)
NM_014946.4(SPAST):c.1261A>G (p.Lys421Glu) rs1558336556
NM_014946.4(SPAST):c.1266G>T (p.Leu422Phe) rs1679543653
NM_014946.4(SPAST):c.1281T>G (p.Phe427Leu)
NM_014946.4(SPAST):c.1306_1308del (p.Ser436del) rs2148753695
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe) rs1553318184
NM_014946.4(SPAST):c.1321+2_1321+3insTT
NM_014946.4(SPAST):c.1321+3A>G
NM_014946.4(SPAST):c.1322-16C>G
NM_014946.4(SPAST):c.1322-30_1322-2del rs1553318205
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.4(SPAST):c.1334G>A (p.Ser445Asn) rs1131691838
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser) rs2148753950
NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys) rs1679553997
NM_014946.4(SPAST):c.1363C>G (p.His455Asp) rs863224769
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn) rs1330471269
NM_014946.4(SPAST):c.1374T>G (p.Ser458Arg) rs1036039694
NM_014946.4(SPAST):c.138T>G (p.His46Gln)
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys) rs1679556566
NM_014946.4(SPAST):c.1408G>C (p.Asp470His) rs1553318261
NM_014946.4(SPAST):c.1411G>T (p.Gly471Cys) rs1679558360
NM_014946.4(SPAST):c.1413+6T>G rs1553318284
NM_014946.4(SPAST):c.1415T>G (p.Val472Gly)
NM_014946.4(SPAST):c.1419G>A (p.Gln473=)
NM_014946.4(SPAST):c.142C>T (p.Arg48Trp)
NM_014946.4(SPAST):c.1432G>A (p.Asp478Asn) rs1191508807
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala) rs1417318347
NM_014946.4(SPAST):c.1448T>C (p.Met483Thr) rs1679565382
NM_014946.4(SPAST):c.1451G>A (p.Gly484Asp) rs1558337098
NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp) rs1553318323
NM_014946.4(SPAST):c.1461T>G (p.Asn487Lys)
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp) rs1553318329
NM_014946.4(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser) rs1060502228
NM_014946.4(SPAST):c.1486G>C (p.Val496Leu) rs779662872
NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)
NM_014946.4(SPAST):c.1494-3T>G
NM_014946.4(SPAST):c.1494-5T>G rs1553319072
NM_014946.4(SPAST):c.1495C>A (p.Arg499Ser) rs121908511
NM_014946.4(SPAST):c.1499T>G (p.Phe500Cys) rs1679732057
NM_014946.4(SPAST):c.149T>C (p.Leu50Pro)
NM_014946.4(SPAST):c.1500C>G (p.Phe500Leu)
NM_014946.4(SPAST):c.1504A>G (p.Lys502Glu)
NM_014946.4(SPAST):c.1505A>C (p.Lys502Thr) rs1558339891
NM_014946.4(SPAST):c.1525C>A (p.Pro509Thr) rs1553319092
NM_014946.4(SPAST):c.1525C>G (p.Pro509Ala) rs1553319092
NM_014946.4(SPAST):c.1525C>T (p.Pro509Ser)
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.4(SPAST):c.152A>G (p.Tyr51Cys) rs1356486929
NM_014946.4(SPAST):c.1536+2dup rs1573165113
NM_014946.4(SPAST):c.1536+5G>A rs1679734284
NM_014946.4(SPAST):c.1537-10T>G
NM_014946.4(SPAST):c.1537-11A>G rs549538513
NM_014946.4(SPAST):c.1537-3C>G rs2148759356
NM_014946.4(SPAST):c.1537A>T (p.Thr513Ser) rs1553319281
NM_014946.4(SPAST):c.1538C>A (p.Thr513Lys)
NM_014946.4(SPAST):c.1538C>T (p.Thr513Ile) rs2148759367
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser) rs2148759388
NM_014946.4(SPAST):c.1562T>A (p.Leu521Gln)
NM_014946.4(SPAST):c.1565T>C (p.Leu522Ser)
NM_014946.4(SPAST):c.1600C>A (p.Leu534Ile)
NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)
NM_014946.4(SPAST):c.1624G>C (p.Asp542His)
NM_014946.4(SPAST):c.164A>C (p.Tyr55Ser)
NM_014946.4(SPAST):c.1651G>C (p.Ala551Pro)
NM_014946.4(SPAST):c.1672C>G (p.Leu558Val)
NM_014946.4(SPAST):c.1673T>C (p.Leu558Pro)
NM_014946.4(SPAST):c.167C>G (p.Pro56Arg)
NM_014946.4(SPAST):c.167C>T (p.Pro56Leu) rs1676399509
NM_014946.4(SPAST):c.1688-3C>G
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr) rs138146982
NM_014946.4(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp) rs1060502225
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro) rs749484350
NM_014946.4(SPAST):c.1755C>A (p.Phe585Leu) rs778602122
NM_014946.4(SPAST):c.1768A>G (p.Lys590Glu)
NM_014946.4(SPAST):c.1775T>G (p.Ile592Arg)
NM_014946.4(SPAST):c.1776A>G (p.Ile592Met)
NM_014946.4(SPAST):c.1780C>T (p.Arg594Cys) rs1680185992
NM_014946.4(SPAST):c.1796A>C (p.Gln599Pro)
NM_014946.4(SPAST):c.179G>A (p.Gly60Asp) rs1558605758
NM_014946.4(SPAST):c.17G>A (p.Gly6Glu)
NM_014946.4(SPAST):c.1816C>T (p.Arg606Cys)
NM_014946.4(SPAST):c.188TGC[3] (p.Leu64_Arg65insLeu)
NM_014946.4(SPAST):c.198G>C (p.Leu66Phe) rs2148685510
NM_014946.4(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro) rs1558605777
NM_014946.4(SPAST):c.208C>A (p.His70Asn)
NM_014946.4(SPAST):c.209A>T (p.His70Leu)
NM_014946.4(SPAST):c.20G>T (p.Arg7Leu) rs750900931
NM_014946.4(SPAST):c.232C>G (p.Leu78Val) rs1558605868
NM_014946.4(SPAST):c.23G>A (p.Gly8Glu)
NM_014946.4(SPAST):c.269A>G (p.Lys90Arg)
NM_014946.4(SPAST):c.26A>G (p.Lys9Arg)
NM_014946.4(SPAST):c.277T>C (p.Ser93Pro) rs1156801351
NM_014946.4(SPAST):c.277T>G (p.Ser93Ala)
NM_014946.4(SPAST):c.280G>A (p.Gly94Arg) rs750218565
NM_014946.4(SPAST):c.284C>T (p.Ala95Val) rs780016543
NM_014946.4(SPAST):c.293C>T (p.Ala98Val)
NM_014946.4(SPAST):c.295C>T (p.Pro99Ser)
NM_014946.4(SPAST):c.296C>T (p.Pro99Leu)
NM_014946.4(SPAST):c.301TCGGCC[3] (p.Ala104_Pro105insSerAla)
NM_014946.4(SPAST):c.312_317del (p.104AP[1])
NM_014946.4(SPAST):c.317C>T (p.Ala106Val) rs1385218846
NM_014946.4(SPAST):c.320C>T (p.Pro107Leu) rs776858496
NM_014946.4(SPAST):c.326C>G (p.Pro109Arg)
NM_014946.4(SPAST):c.372C>G (p.Phe124Leu) rs754912349
NM_014946.4(SPAST):c.377A>T (p.Tyr126Phe) rs781065348
NM_014946.4(SPAST):c.379A>G (p.Ile127Val) rs1395313104
NM_014946.4(SPAST):c.3G>C (p.Met1Ile)
NM_014946.4(SPAST):c.40G>A (p.Gly14Ser)
NM_014946.4(SPAST):c.419G>T (p.Gly140Val)
NM_014946.4(SPAST):c.421C>G (p.Gln141Glu)
NM_014946.4(SPAST):c.493A>G (p.Thr165Ala) rs770141489
NM_014946.4(SPAST):c.511T>C (p.Cys171Arg) rs746073001
NM_014946.4(SPAST):c.526C>A (p.Arg176Ser) rs775364035
NM_014946.4(SPAST):c.526C>T (p.Arg176Cys)
NM_014946.4(SPAST):c.586+3A>G rs1677631075
NM_014946.4(SPAST):c.589A>G (p.Lys197Glu)
NM_014946.4(SPAST):c.601G>A (p.Val201Ile)
NM_014946.4(SPAST):c.638A>G (p.Asn213Ser)
NM_014946.4(SPAST):c.642C>A (p.Asp214Glu) rs1678016729
NM_014946.4(SPAST):c.644G>A (p.Ser215Asn) rs774722817
NM_014946.4(SPAST):c.651C>A (p.Asn217Lys)
NM_014946.4(SPAST):c.659G>A (p.Cys220Tyr)
NM_014946.4(SPAST):c.662G>A (p.Arg221His)
NM_014946.4(SPAST):c.662G>T (p.Arg221Leu)
NM_014946.4(SPAST):c.664A>T (p.Asn222Tyr)
NM_014946.4(SPAST):c.665A>G (p.Asn222Ser)
NM_014946.4(SPAST):c.67A>G (p.Arg23Gly)
NM_014946.4(SPAST):c.683-3C>G
NM_014946.4(SPAST):c.685A>G (p.Ser229Gly)
NM_014946.4(SPAST):c.70C>T (p.Pro24Ser)
NM_014946.4(SPAST):c.740C>G (p.Pro247Arg) rs1316217696
NM_014946.4(SPAST):c.796G>A (p.Ala266Thr)
NM_014946.4(SPAST):c.808A>C (p.Ser270Arg)
NM_014946.4(SPAST):c.808A>G (p.Ser270Gly)
NM_014946.4(SPAST):c.816A>C (p.Leu272Phe)
NM_014946.4(SPAST):c.818C>A (p.Ser273Tyr)
NM_014946.4(SPAST):c.820A>G (p.Met274Val)
NM_014946.4(SPAST):c.830G>T (p.Gly277Val) rs1678761963
NM_014946.4(SPAST):c.832G>C (p.Val278Leu) rs369908571
NM_014946.4(SPAST):c.839A>C (p.Gln280Pro)
NM_014946.4(SPAST):c.83G>C (p.Cys28Ser) rs1676390484
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)
NM_014946.4(SPAST):c.863C>T (p.Thr288Ile) rs148680726
NM_014946.4(SPAST):c.871-29_871-9del
NM_014946.4(SPAST):c.871G>T (p.Gly291Cys)
NM_014946.4(SPAST):c.872G>T (p.Gly291Val)
NM_014946.4(SPAST):c.910C>G (p.Pro304Ala)
NM_014946.4(SPAST):c.911C>G (p.Pro304Arg)
NM_014946.4(SPAST):c.913A>G (p.Thr305Ala)
NM_014946.4(SPAST):c.916A>G (p.Thr306Ala)
NM_014946.4(SPAST):c.922A>C (p.Thr308Pro)
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys) rs759832933
NM_014946.4(SPAST):c.966C>A (p.Ser322Arg)
NM_014946.4(SPAST):c.97C>T (p.Pro33Ser)
NM_014946.4(SPAST):c.985A>G (p.Met329Val) rs1314415557
NM_014946.4(SPAST):c.987G>A (p.Met329Ile) rs1553315231

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