ClinVar Miner

List of variants in gene TUBA1A studied for congenital nervous system disorder

Included ClinVar conditions (840):
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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_006009.4(TUBA1A):c.453G>C (p.Ser151=) rs697624 0.45037
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_006009.4(TUBA1A):c.859T>A (p.Ser287Thr) rs150978489 0.00002
NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val) rs1942166930
NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu) rs1942166073
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1117A>G (p.Arg373Gly) rs1942165485
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) rs587784481
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) rs1555162294
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1151T>A (p.Ile384Asn) rs1565626962
NM_006009.4(TUBA1A):c.1156G>A (p.Glu386Lys) rs1942164890
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.1182G>C (p.Lys394Asn) rs1942164467
NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro) rs137853048
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) rs1942164218
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) rs587784483
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.1216C>G (p.His406Asp) rs1942163977
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1232A>G (p.Glu411Gly)
NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp) rs1565626906
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) rs137853047
NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr) rs1592259391
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.1268A>G (p.Glu423Gly)
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.1288_1302del (p.Lys430_Glu434del) rs2121241118
NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del) rs1555162244
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) rs1555162242
NM_006009.4(TUBA1A):c.137A>T (p.Asp46Val) rs2121248103
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) rs387906840
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) rs587784485
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) rs587784486
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met) rs1565627727
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) rs1565627707
NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla)
NM_006009.4(TUBA1A):c.217A>G (p.Thr73Ala) rs1592260393
NM_006009.4(TUBA1A):c.235C>T (p.Arg79Cys) rs1555162507
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) rs1942181364
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) rs797046072
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.3+3del rs2121256921
NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser) rs1565627526
NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln) rs1565627513
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
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.385T>C (p.Cys129Arg) rs1942175585
NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val) rs2121245032
NM_006009.4(TUBA1A):c.442G>A (p.Gly148Arg) rs2121244979
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.47T>C (p.Ile16Thr) rs1942187200
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.52A>T (p.Asn18Tyr)
NM_006009.4(TUBA1A):c.539C>T (p.Ala180Val) rs2121244643
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.541G>A (p.Val181Ile)
NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala) rs1942173367
NM_006009.4(TUBA1A):c.547G>A (p.Glu183Lys)
NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu) rs137853045
NM_006009.4(TUBA1A):c.562_564dup (p.Ile188dup) rs587784490
NM_006009.4(TUBA1A):c.598T>C (p.Cys200Arg) rs1942172759
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.609G>A (p.Met203Ile) rs2121244334
NM_006009.4(TUBA1A):c.635_640del (p.Ile212_Arg214delinsSer) rs2121244201
NM_006009.4(TUBA1A):c.637_640del (p.Cys213fs)
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.657T>G (p.Ile219Met) rs146680997
NM_006009.4(TUBA1A):c.661C>G (p.Arg221Gly)
NM_006009.4(TUBA1A):c.680T>A (p.Leu227Gln) rs2121243965
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) rs587784492
NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser) rs1942171599
NM_006009.4(TUBA1A):c.703G>C (p.Val235Leu) rs1565627190
NM_006009.4(TUBA1A):c.746A>G (p.Asn249Ser) rs1942171146
NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr) rs1565627777
NM_006009.4(TUBA1A):c.758C>G (p.Thr253Arg) rs587784493
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.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.806T>C (p.Leu269Pro) rs2121243526
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.818C>A (p.Ala273Asp) rs2121243396
NM_006009.4(TUBA1A):c.82C>T (p.His28Tyr) rs1555162549
NM_006009.4(TUBA1A):c.870G>T (p.Glu290Asp)
NM_006009.4(TUBA1A):c.875C>T (p.Thr292Ile)
NM_006009.4(TUBA1A):c.879_899del (p.Ala294_Asn300del)
NM_006009.4(TUBA1A):c.889G>A (p.Glu297Lys)
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.4(TUBA1A):c.937A>G (p.Met313Val)
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp)
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) rs797046073
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) rs587784495
NM_006009.4(TUBA1A):c.991G>A (p.Ala331Thr) rs587784496
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497

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