List of variants in gene CEP290 reported as likely pathogenic for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G	rs369523378	0.00046
NM_025114.4(CEP290):c.4437+1G>A	rs760915898	0.00009
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_025114.4(CEP290):c.5012+2T>C	rs1369768287	0.00001
NM_025114.4(CEP290):c.6358-1G>A	rs766670248	0.00001
NM_025114.4(CEP290):c.1523-1G>T	rs1192112844
NM_025114.4(CEP290):c.180+1G>A	rs758593134
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)	rs62635288
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)	rs1592807018
NM_025114.4(CEP290):c.5709+1G>A	rs759850328
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter)	rs1592726020
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]

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