List of variants in gene CEP290 reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6646-11T>G	rs1431021703	0.00007
NM_025114.4(CEP290):c.102+1G>T	rs2040637111
NM_025114.4(CEP290):c.180+1G>A	rs758593134
NM_025114.4(CEP290):c.2682dup (p.Ser895fs)	rs1555216730
NM_025114.4(CEP290):c.3462dup (p.Leu1155fs)	rs2037140260
NM_025114.4(CEP290):c.4029+1G>A	rs2036808766
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala)	rs1425716932
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)	rs886042360

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