List of variants in gene TUBA1A reported as pathogenic by Ambry Genetics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)	rs137853049
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys)	rs1555162486
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys)	rs886039513
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser)	rs1555162407
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)	rs1565627304
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.652G>A (p.Asp218Asn)	rs1057517858
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)	rs137853043

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