List of variants in gene CEP290 reported as likely pathogenic for CEP290-Related Disorders

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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: 18

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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.4966G>T (p.Glu1656Ter)	rs62638179	0.00006
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)	rs1170451277	0.00001
NC_000012.11:g.(88500876_88502842)_(88505636_88508196)del
NM_025114.4(CEP290):c.102+2T>G	rs763226787
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)	rs2137624440
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)	rs1223251937
NM_025114.4(CEP290):c.2992-1G>T
NM_025114.4(CEP290):c.2992-2A>T
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)	rs778407127
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)	rs2036824785
NM_025114.4(CEP290):c.384_385del (p.Asp128fs)	rs1288619268
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)	rs2137056192
NM_025114.4(CEP290):c.5803del (p.Glu1935fs)
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)	rs1157238971
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)	rs1478582091

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