List of variants studied for CEP290-related ciliopathy by DBGen Ocular Genomics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	rs539400286	0.00002
NM_025114.4(CEP290):c.133_136del (p.Gln45fs)	rs2138298697
NM_025114.4(CEP290):c.41A>G (p.Asp14Gly)	rs2138306044
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)	rs757309583
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)	rs758329611

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