ClinVar Miner

List of variants in gene TUBA1A reported as likely pathogenic for Lissencephaly 3

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Total variants: 24
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HGVS dbSNP
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
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.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) rs587784483
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) rs1555162242
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.217A>G (p.Thr73Ala)
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) rs797046072
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.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) rs587784492
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp) rs1565627072
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) rs797046073
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497

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