ClinVar Miner

List of variants in gene TUBA1A reported as likely pathogenic for not provided

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro) rs1555162307
NM_006009.4(TUBA1A):c.1063A>G (p.Ile355Val)
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.110C>T (p.Pro37Leu)
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1239G>A (p.Met413Ile) rs2121241333
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) rs137853047
NM_006009.4(TUBA1A):c.139G>C (p.Asp47His) rs1555162536
NM_006009.4(TUBA1A):c.167_168delinsAT (p.Thr56Asn) rs2121247899
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) rs1942181364
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.284G>A (p.Gly95Asp)
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.38G>C (p.Gly13Ala) rs2121248621
NM_006009.4(TUBA1A):c.413T>C (p.Phe138Ser)
NM_006009.4(TUBA1A):c.424G>T (p.Gly142Cys) rs1555162407
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.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>C (p.Gln176His)
NM_006009.4(TUBA1A):c.53A>T (p.Asn18Ile) rs1064795213
NM_006009.4(TUBA1A):c.542T>C (p.Val181Ala)
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) rs786205479
NM_006009.4(TUBA1A):c.631G>A (p.Asp211Asn) rs1942172546
NM_006009.4(TUBA1A):c.657T>G (p.Ile219Met) rs146680997
NM_006009.4(TUBA1A):c.715A>C (p.Thr239Pro) rs1064795738
NM_006009.4(TUBA1A):c.758C>A (p.Thr253Lys) rs587784493
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
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.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.956A>G (p.Tyr319Cys) rs2121242769

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