List of variants in gene CEP290 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00029
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	rs370119681	0.00004
NM_025114.4(CEP290):c.5587-1G>C	rs968692633	0.00001
NM_025114.4(CEP290):c.1666del (p.Ile556fs)	rs727503855
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)	rs1555208870
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)	rs757309583
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter)	rs2035405646
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)	rs1364945778

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