List of variants in gene CEP290 reported as pathogenic by Dept Of Ophthalmology, Nagoya University

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1711+1G>A	rs587783009	0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	rs137852835	0.00001
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)	rs1033594764
NM_025114.4(CEP290):c.3361G>T (p.Glu1121Ter)	rs2500234504
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)	rs1592784618

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