List of variants in gene CEP290 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)	rs117122459	0.02390
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.3465G>A (p.Leu1155=)	rs150138016	0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)	rs79644671	0.00740
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val)	rs75220808	0.00678
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	rs147371999	0.00585
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	rs117852025	0.00488
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	rs188164241	0.00405
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	rs117370446	0.00329
NM_025114.4(CEP290):c.341G>A (p.Arg114His)	rs150296134	0.00073
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	rs137852834	0.00009
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)	rs199826787	0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)	rs556820066	0.00006
NM_025114.4(CEP290):c.1066-1G>A	rs965522059	0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val)	rs1427374639	0.00002
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)	rs757641323	0.00001
NM_025114.4(CEP290):c.1825-17CT[2]	rs367600498
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly)	rs1565777729
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)	rs558949569

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