ClinVar Miner

List of variants in gene TUBA1A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 99
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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.3+68A>C rs1039225 0.30825
NM_006009.4(TUBA1A):c.4-137del rs34741313 0.30677
NM_006009.4(TUBA1A):c.3+103C>T rs35896524 0.03762
NM_006009.4(TUBA1A):c.510T>C (p.Ser170=) rs112023543 0.02931
NM_006009.4(TUBA1A):c.522G>A (p.Ala174=) rs61730859 0.02903
NM_006009.4(TUBA1A):c.227-42T>C rs111590199 0.02130
NM_006009.4(TUBA1A):c.227-38C>G rs112063173 0.01948
NM_006009.4(TUBA1A):c.*211A>G rs140121590 0.00985
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_006009.4(TUBA1A):c.376-149G>A rs138835855 0.00810
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=) rs142641191 0.00248
NM_006009.4(TUBA1A):c.189C>T (p.Pro63=) rs147273934 0.00200
NM_006009.4(TUBA1A):c.246C>T (p.Thr82=) rs1134868 0.00190
NM_006009.4(TUBA1A):c.396C>T (p.Leu132=) rs1143560 0.00143
NM_006009.4(TUBA1A):c.786T>C (p.Tyr262=) rs762008241 0.00096
NM_006009.4(TUBA1A):c.1044C>T (p.Pro348=) rs144574983 0.00085
NM_006009.4(TUBA1A):c.226+10C>T rs199717430 0.00078
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_006009.4(TUBA1A):c.227-17C>G rs367632910 0.00030
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=) rs1143559 0.00018
NM_006009.4(TUBA1A):c.4-4A>G rs1280504729 0.00003
NM_006009.4(TUBA1A):c.1266T>G (p.Arg422=) rs761301881 0.00002
NM_006009.4(TUBA1A):c.1227T>G (p.Val409=) rs766135902 0.00001
NM_006009.4(TUBA1A):c.*1del (p.Ter452=) rs781483247
NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro) rs1555162307
NM_006009.4(TUBA1A):c.1056G>C (p.Lys352Asn)
NM_006009.4(TUBA1A):c.1063A>G (p.Ile355Val)
NM_006009.4(TUBA1A):c.1076C>T (p.Pro359Leu) rs1085307724
NM_006009.4(TUBA1A):c.1078C>T (p.Pro360Ser) rs2121242056
NM_006009.4(TUBA1A):c.1091C>G (p.Pro364Arg) rs1131691349
NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) rs1555162299
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
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.1181A>G (p.Lys394Arg) rs2121241553
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.1216C>T (p.His406Tyr) rs1942163977
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.1230G>T (p.Gly410=) rs772809398
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser) rs1057521986
NM_006009.4(TUBA1A):c.1257A>G (p.Ser419=) rs865953916
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.139G>C (p.Asp47His) rs1555162536
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met) rs1565627727
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.235C>T (p.Arg79Cys) rs1555162507
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) rs1942181364
NM_006009.4(TUBA1A):c.268G>C (p.Glu90Gln) rs1555162495
NM_006009.4(TUBA1A):c.273A>G (p.Gln91=) rs765483435
NM_006009.4(TUBA1A):c.3+157CGC[5] rs560742601
NM_006009.4(TUBA1A):c.326C>G (p.Thr109Ser) rs2121246504
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
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.376-1G>C rs1942175909
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.424G>T (p.Gly142Cys) rs1555162407
NM_006009.4(TUBA1A):c.427G>A (p.Gly143Arg) rs1131691318
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) rs1057521063
NM_006009.4(TUBA1A):c.485G>T (p.Gly162Val) rs2121244807
NM_006009.4(TUBA1A):c.48del (p.Ile16fs)
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro) rs1555162392
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.528G>T (p.Gln176His)
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.581C>T (p.Thr194Ile) rs1397581823
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.640C>T (p.Arg214Cys) rs886044568
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.667A>G (p.Thr223Ala)
NM_006009.4(TUBA1A):c.715A>C (p.Thr239Pro) rs1064795738
NM_006009.4(TUBA1A):c.733G>A (p.Asp245Asn) rs1555162357
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.815A>G (p.Tyr272Cys) rs1064795417
NM_006009.4(TUBA1A):c.82C>T (p.His28Tyr) rs1555162549
NM_006009.4(TUBA1A):c.870G>T (p.Glu290Asp)
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser) rs1942169629
NM_006009.4(TUBA1A):c.887T>C (p.Phe296Ser) rs1131691597
NM_006009.4(TUBA1A):c.916G>T (p.Asp306Tyr) rs1555162330
NM_006009.4(TUBA1A):c.919C>T (p.Pro307Ser) rs1555162327
NM_006009.4(TUBA1A):c.922C>T (p.Arg308Cys)
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006009.4(TUBA1A):c.967G>A (p.Val323Met) rs2121242709

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