List of variants in gene CEP290 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)	rs117122459	0.02377
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.5322C>T (p.Leu1774=)	rs117370446	0.00329
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	rs201838492	0.00133
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)	rs201614215	0.00091
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)	rs189556433	0.00058
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)	rs201295052	0.00020
NM_025114.4(CEP290):c.1712-6A>G	rs1452155200	0.00001

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