List of variants in gene TUBA1A reported as likely pathogenic by GeneDx

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.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.1148C>A (p.Ala383Asp)	rs587784482
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	rs797045005
NM_006009.4(TUBA1A):c.139G>C (p.Asp47His)	rs1555162536
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr)	rs1085307716
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.520G>C (p.Ala174Pro)	rs1555162392
NM_006009.4(TUBA1A):c.715A>C (p.Thr239Pro)	rs1064795738
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

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