List of variants in gene CEP290 reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	rs62638179	0.00006
NM_025114.4(CEP290):c.4438-3del	rs747323414	0.00004
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)	rs1465414886
NM_025114.4(CEP290):c.4705-2A>C	rs2137170380
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)	rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)	rs561598805
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)	rs45502896
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)	rs774072453

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