List of variants in gene TUBA1A reported as uncertain significance for congenital nervous system disorder

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_006009.4(TUBA1A):c.4-7C>T	rs560491477	0.00053
NM_006009.4(TUBA1A):c.859T>A (p.Ser287Thr)	rs150978489	0.00002
NM_006009.4(TUBA1A):c.1117A>G (p.Arg373Gly)	rs1942165485
NM_006009.4(TUBA1A):c.1136G>A (p.Ser379Asn)
NM_006009.4(TUBA1A):c.1182G>C (p.Lys394Asn)	rs1942164467
NM_006009.4(TUBA1A):c.1232A>G (p.Glu411Gly)
NM_006009.4(TUBA1A):c.1247G>A (p.Gly416Asp)	rs1565626906
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln)	rs2121246284
NM_006009.4(TUBA1A):c.385T>C (p.Cys129Arg)	rs1942175585
NM_006009.4(TUBA1A):c.442G>A (p.Gly148Arg)	rs2121244979
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)	rs587784489
NM_006009.4(TUBA1A):c.527A>T (p.Gln176Leu)
NM_006009.4(TUBA1A):c.541G>A (p.Val181Ile)
NM_006009.4(TUBA1A):c.547G>A (p.Glu183Lys)
NM_006009.4(TUBA1A):c.562_564dup (p.Ile188dup)	rs587784490
NM_006009.4(TUBA1A):c.661C>G (p.Arg221Gly)
NM_006009.4(TUBA1A):c.680T>A (p.Leu227Gln)	rs2121243965
NM_006009.4(TUBA1A):c.758C>G (p.Thr253Arg)	rs587784493
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)	rs886043627
NM_006009.4(TUBA1A):c.82C>T (p.His28Tyr)	rs1555162549
NM_006009.4(TUBA1A):c.889G>A (p.Glu297Lys)
NM_006009.4(TUBA1A):c.937A>G (p.Met313Val)
NM_006009.4(TUBA1A):c.991G>A (p.Ala331Thr)	rs587784496
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)	rs587784497

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