ClinVar Miner

List of variants in gene COL25A1 reported as 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)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg)	rs780209390	0.00003
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter)	rs886037741
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
NM_198721.4:c.368-5122_708+6063del

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