List of variants in gene CEP290 reported as pathogenic by Blueprint 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00028
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)	rs137852834	0.00008
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)	rs772170760	0.00003
NM_025114.4(CEP290):c.6012-12T>A	rs752197734	0.00002
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)	rs780225183	0.00001
NM_025114.4(CEP290):c.5587-1G>C	rs968692633	0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_025114.4(CEP290):c.1666del (p.Ile556fs)	rs727503855
NM_025114.4(CEP290):c.2052+1_2052+2del	rs747835249
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)	rs780624853
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)	rs587783017
NM_025114.4(CEP290):c.828del (p.Glu277fs)	rs1555225566

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