List of variants in gene CEP290 reported as pathogenic by Revvity Omics, Revvity

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00028
NM_025114.4(CEP290):c.4437+1G>A	rs760915898	0.00009
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	rs376493409	0.00007
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)	rs776645403	0.00003
NM_025114.4(CEP290):c.297+1G>T	rs878853360	0.00001
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)	rs62640581	0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)	rs137852835	0.00001
NM_025114.4(CEP290):c.1666del (p.Ile556fs)	rs727503855
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)	rs2137720951
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)	rs753884599
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)	rs780624853
NM_025114.4(CEP290):c.4704+1G>T	rs1565835538
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)	rs764309755
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)	rs749331348
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	rs561598805

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