ClinVar Miner

List of variants in gene TUBB3 reported as uncertain significance for congenital fibrosis of extraocular muscles

Included ClinVar conditions (10):

Congenital bilateral perisylvian syndrome; Congenital fibrosis of extraocular muscles
Congenital fibrosis of extraocular muscles
Congenital fibrosis of extraocular muscles type 1
Congenital fibrosis of extraocular muscles type 1; Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1; Congenital Fibrosis of the Extraocular Muscles 1B
Congenital fibrosis of extraocular muscles; Brain malformation
Fibrosis of extraocular muscles, congenital, 2
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; Complex cortical dysplasia with other brain malformations 1
Fibrosis of extraocular muscles, congenital, 3b
Fibrosis of extraocular muscles, congenital, 5

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
NM_006086.4(TUBB3):c.418G>C (p.Gly140Arg)
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg)	rs1567765029
NM_006086.4(TUBB3):c.640A>G (p.Thr214Ala)
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)	rs587784506

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.