List of variants in gene CEP290 reported as pathogenic by Ambry Genetics

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.4723A>T (p.Lys1575Ter)	rs137852834	0.00008
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	rs376493409	0.00007
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)	rs772170760	0.00003
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)	rs758550675
NM_025114.4(CEP290):c.373G>T (p.Glu125Ter)	rs2040371663
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)	rs757609119
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)	rs587783017

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