List of variants in gene COL25A1 studied for congenital fibrosis of extraocular muscles

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_198721.4(COL25A1):c.130G>A (p.Val44Met)	rs201162812	0.00014
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg)	rs780209390	0.00003
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter)	rs1274380766	0.00001
NM_198721.4(COL25A1):c.672+1G>A	rs759316372	0.00001
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter)	rs886037741
NM_198721.4(COL25A1):c.1585G>A (p.Gly529Ser)
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
NM_198721.4(COL25A1):c.672+1del	rs2125927453
NM_198721.4:c.368-5122_708+6063del

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