ClinVar Miner

List of variants in gene TUBA1A reported by GeneDx

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Total variants: 53
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HGVS dbSNP
NM_006009.4(TUBA1A):c.*1del (p.Ter452=) rs781483247
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764
NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro) rs1555162307
NM_006009.4(TUBA1A):c.1044C>T (p.Pro348=) rs144574983
NM_006009.4(TUBA1A):c.1076C>T (p.Pro359Leu) rs1085307724
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>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1227T>G (p.Val409=) rs766135902
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.17C>G (p.Ser6Cys) rs1057520574
NM_006009.4(TUBA1A):c.189C>T (p.Pro63=) rs147273934
NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp) rs1064794568
NM_006009.4(TUBA1A):c.226+10C>T rs199717430
NM_006009.4(TUBA1A):c.227-17C>G rs367632910
NM_006009.4(TUBA1A):c.235C>T (p.Arg79Cys) rs1555162507
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.396C>T (p.Leu132=) rs1143560
NM_006009.4(TUBA1A):c.4-4A>G rs1280504729
NM_006009.4(TUBA1A):c.4-7C>T rs560491477
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.455T>A (p.Leu152Gln) rs1057521063
NM_006009.4(TUBA1A):c.510T>C (p.Ser170=) rs112023543
NM_006009.4(TUBA1A):c.520G>C (p.Ala174Pro) rs1555162392
NM_006009.4(TUBA1A):c.522G>A (p.Ala174=) rs61730859
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
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.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.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.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.966C>T (p.Asp322=) rs142641191

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