List of variants in gene CEP290 reported as benign by PreventionGenetics, part of Exact Sciences

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG	rs71082425	0.87640
NM_025114.4(CEP290):c.2818-50G>C	rs2471532	0.76931
NM_025114.4(CEP290):c.5227-43G>A	rs2468245	0.76925
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)	rs45465996	0.11965
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)	rs11104738	0.05247
NM_025114.4(CEP290):c.442-19T>A	rs113132803	0.05166
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)	rs7307793	0.05017
NM_025114.4(CEP290):c.5709+18C>A	rs7973969	0.05003
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)	rs7970228	0.04262
NM_025114.4(CEP290):c.5709+25A>C	rs17015438	0.03950
NM_025114.4(CEP290):c.7035-38C>G	rs45477492	0.03735
NM_025114.4(CEP290):c.297+36A>G	rs45468703	0.02898
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)	rs117122459	0.02377
NM_025114.4(CEP290):c.251-10A>T	rs190383141	0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)	rs79705698	0.02050
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)	rs45502896	0.01608
NM_025114.4(CEP290):c.2817+48A>G	rs76460170	0.01228
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)	rs150138016	0.00760
NM_025114.4(CEP290):c.1624-5T>C	rs142742071	0.00704
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	rs79644671	0.00692
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)	rs75220808	0.00637
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	rs147371999	0.00585
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	rs117370446	0.00329
NM_025114.4(CEP290):c.251-11T>A	rs200666995	0.00200
NM_025114.4(CEP290):c.1825-17CT[2]	rs367600498
NM_025114.4(CEP290):c.2554C>A (p.Gln852Lys)	rs886038694
NM_025114.4(CEP290):c.3574-9del	rs10717563
NM_025114.4(CEP290):c.4704+46del	rs11356711
NM_025114.4(CEP290):c.5709+45G>C	rs45477793
NM_025114.4(CEP290):c.6522+5dup	rs11405846

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