ClinVar Miner

List of variants in gene SPAST reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014946.4(SPAST):c.832G>A (p.Val278Met) rs369908571 0.00006
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val) rs368801051 0.00004
NM_014946.4(SPAST):c.109G>C (p.Gly37Arg) rs771455657 0.00002
NM_014946.4(SPAST):c.1010C>T (p.Thr337Ile) rs1313522467 0.00001
NM_014946.4(SPAST):c.1181C>T (p.Ala394Val) rs1189374970 0.00001
NM_014946.4(SPAST):c.1292G>A (p.Arg431Gln) rs748779010 0.00001
NM_014946.4(SPAST):c.1373G>C (p.Ser458Thr) rs562431619 0.00001
NM_014946.4(SPAST):c.1486G>A (p.Val496Ile) rs779662872 0.00001
NM_014946.4(SPAST):c.157T>G (p.Phe53Val) rs200029938 0.00001
NM_014946.4(SPAST):c.1624G>A (p.Asp542Asn) rs780404151 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_014946.4(SPAST):c.412A>G (p.Lys138Glu) rs1313534781 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.98C>T (p.Pro33Leu) rs777721232 0.00001
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.1061T>C (p.Leu354Ser) rs1553315342
NM_014946.4(SPAST):c.1061T>G (p.Leu354Trp) rs1553315342
NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys) rs1553315356
NM_014946.4(SPAST):c.1097A>T (p.Glu366Val) rs1678828780
NM_014946.4(SPAST):c.1098+5G>T rs886042914
NM_014946.4(SPAST):c.10C>T (p.Pro4Ser) rs937319046
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro) rs1553316802
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser) rs1425976342
NM_014946.4(SPAST):c.1148C>A (p.Pro383Gln) rs2148745001
NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)
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.1184_1186dup (p.Val395_Ala396insVal)
NM_014946.4(SPAST):c.1212_1215delinsAAAA (p.Phe404_Asn405delinsLeuLys)
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.4(SPAST):c.1240A>G (p.Lys414Glu) rs2148746411
NM_014946.4(SPAST):c.1245+5G>A rs1553317049
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.4(SPAST):c.124C>A (p.Pro42Thr)
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys) rs1553318164
NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys) rs1679553997
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn) rs1330471269
NM_014946.4(SPAST):c.1385A>T (p.Lys462Ile)
NM_014946.4(SPAST):c.1397T>C (p.Leu466Pro) rs1573156486
NM_014946.4(SPAST):c.1399A>G (p.Ile467Val) rs1573156509
NM_014946.4(SPAST):c.1409A>C (p.Asp470Ala) rs121908516
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala) rs1417318347
NM_014946.4(SPAST):c.1487T>G (p.Val496Gly) rs867575128
NM_014946.4(SPAST):c.1494-5T>G rs1553319072
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.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.4(SPAST):c.1536+5G>T rs1679734284
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1574A>G (p.Gln525Arg) rs2148759426
NM_014946.4(SPAST):c.1610T>G (p.Leu537Arg)
NM_014946.4(SPAST):c.1640G>A (p.Ser547Asn)
NM_014946.4(SPAST):c.1655T>C (p.Leu552Ser)
NM_014946.4(SPAST):c.1688-10T>C rs2148762754
NM_014946.4(SPAST):c.1688-4A>C rs1573174134
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.1762T>C (p.Ser588Pro) rs1131691972
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.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.1A>G (p.Met1Val)
NM_014946.4(SPAST):c.244T>C (p.Phe82Leu) rs1558605895
NM_014946.4(SPAST):c.277T>C (p.Ser93Pro) rs1156801351
NM_014946.4(SPAST):c.29A>G (p.Lys10Arg) rs2148685090
NM_014946.4(SPAST):c.301TCGGCC[1] (p.101SA[1])
NM_014946.4(SPAST):c.372C>G (p.Phe124Leu) rs754912349
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr) rs781222498
NM_014946.4(SPAST):c.385A>G (p.Ile129Val) rs1362108129
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu) rs763649847
NM_014946.4(SPAST):c.586+9_586+12del rs554544808
NM_014946.4(SPAST):c.647C>G (p.Thr216Ser) rs374578162
NM_014946.4(SPAST):c.664A>G (p.Asn222Asp) rs1354823029
NM_014946.4(SPAST):c.682+5G>T
NM_014946.4(SPAST):c.73C>T (p.Pro25Ser)
NM_014946.4(SPAST):c.788A>G (p.His263Arg) rs2148733019
NM_014946.4(SPAST):c.791A>G (p.His264Arg) rs773455529
NM_014946.4(SPAST):c.811G>A (p.Gly271Ser)
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)
NM_014946.4(SPAST):c.871G>T (p.Gly291Cys)
NM_014946.4(SPAST):c.876T>C (p.Thr292=) rs1573120364
NM_014946.4(SPAST):c.918T>C (p.Thr306=)
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys) rs759832933

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