ClinVar Miner

List of variants in gene TUBA1A reported as pathogenic

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Total variants: 81
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HGVS dbSNP
NM_006009.4(TUBA1A):c.1007A>G (p.Lys336Arg) rs1565627040
NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) rs1555162299
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1112T>A (p.Val371Glu) rs1565626988
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1160C>T (p.Ala387Val) rs1565626959
NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly) rs1064793286
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) rs1064796460
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.4(TUBA1A):c.1186G>T (p.Asp396Tyr) rs1565626951
NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro) rs137853048
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu) rs137853044
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile) rs1565626928
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) rs137853047
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) rs137853049
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.1285G>C (p.Glu429Gln) rs1565626872
NM_006009.4(TUBA1A):c.1306G>C (p.Gly436Arg) rs1565626860
NM_006009.4(TUBA1A):c.1307G>A (p.Gly436Asp) rs1565626851
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) rs387906840
NM_006009.4(TUBA1A):c.161G>A (p.Ser54Asn) rs1565627740
NM_006009.4(TUBA1A):c.163G>A (p.Glu55Lys) rs1565627735
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met) rs1565627727
NM_006009.4(TUBA1A):c.172G>C (p.Ala58Pro) rs1565627718
NM_006009.4(TUBA1A):c.175G>A (p.Gly59Ser) rs1565627712
NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) rs1057520574
NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp) rs1064794568
NM_006009.4(TUBA1A):c.209T>C (p.Leu70Ser) rs1565627684
NM_006009.4(TUBA1A):c.214C>T (p.Pro72Ser) rs1565627680
NM_006009.4(TUBA1A):c.215C>G (p.Pro72Arg) rs1565627677
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.274C>G (p.Leu92Val) rs1565627548
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys) rs1555162486
NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser) rs1565627526
NM_006009.4(TUBA1A):c.320A>G (p.His107Arg) rs1565627517
NM_006009.4(TUBA1A):c.337G>A (p.Glu113Lys) rs769889742
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.4(TUBA1A):c.352G>C (p.Val118Leu) rs863224938
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.381C>A (p.Asp127Glu) rs1565627390
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.4(TUBA1A):c.433A>G (p.Thr145Ala) rs1565627349
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.473C>T (p.Ser158Leu) rs1565627324
NM_006009.4(TUBA1A):c.481T>C (p.Tyr161His) rs587784488
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
NM_006009.4(TUBA1A):c.4C>A (p.Arg2Ser) rs1565627805
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu) rs137853045
NM_006009.4(TUBA1A):c.565C>G (p.Leu189Val) rs113208258
NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr) rs1565627260
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.629A>G (p.Tyr210Cys) rs1565627253
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.652G>T (p.Asp218Tyr) rs1057517858
NM_006009.4(TUBA1A):c.703G>T (p.Val235Leu) rs1565627190
NM_006009.4(TUBA1A):c.74G>T (p.Cys25Phe) rs1565627777
NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr) rs137853046
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006009.4(TUBA1A):c.79G>C (p.Glu27Gln) rs1057521064
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.908T>G (p.Val303Gly) rs1565627104
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006009.4(TUBA1A):c.978A>C (p.Lys326Asn) rs1565627058
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) rs587784495
NM_006009.4(TUBA1A):c.998C>T (p.Ala333Val) rs1565627046

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