List of variants in gene CEP290 reported as pathogenic by Genome Diagnostics Laboratory, Amsterdam University 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	rs137852834	0.00008
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	rs749439750	0.00002
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	rs1412133967	0.00001
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)	rs771266705
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	rs62640570

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