List of variants in gene CEP290 reported as likely benign for Retinal dystrophy

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.503G>A (p.Arg168His)	rs200063017	0.00029
NM_025114.4(CEP290):c.384T>C (p.Asp128=)	rs76267039	0.00026
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)	rs200090371	0.00011
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=)	rs189871589	0.00008
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)	rs147362398	0.00005
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=)	rs544886883	0.00003
NM_025114.4(CEP290):c.2091G>A (p.Ala697=)	rs1399023990	0.00001
NM_025114.4(CEP290):c.2533A>C (p.Arg845=)	rs371475408	0.00001
NM_025114.4(CEP290):c.4044T>C (p.His1348=)	rs771298371	0.00001
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=)	rs775652694	0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)	rs562477272	0.00001
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=)	rs2136912612

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