ClinVar Miner

List of variants reported as likely benign for congenital fibrosis of extraocular muscles by Fulgent Genetics, Fulgent Genetics

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

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg)	rs149219011	0.00766
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys)	rs142879430	0.00044

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