ClinVar Miner

List of variants in gene TUBB3 reported as likely pathogenic 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)	rs1555625363
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)	rs1057517908
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)	rs864321716

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