List of variants in gene CEP290 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	rs182369459	0.00231
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)	rs139998038	0.00187
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)	rs772603458	0.00022
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu)	rs183387506	0.00012
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp)	rs769370948	0.00003
NM_025114.4(CEP290):c.1675A>G (p.Met559Val)
NM_025114.4(CEP290):c.6122A>G (p.Tyr2041Cys)

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