List of variants in gene TUBA1A reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
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.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.269A>G (p.Glu90Gly)	rs797046072
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.808G>T (p.Ala270Ser)	rs587784494
NM_006009.4(TUBA1A):c.956A>G (p.Tyr319Cys)	rs2121242769
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu)	rs797046073
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)	rs587784497

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