List of variants in gene combination CEP290, LOC129390514 reported as likely pathogenic for CEP290-related ciliopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6277del (p.Val2093fs)	rs771454167	0.00002
NM_025114.4(CEP290):c.6271-1G>A	rs2034579709
NM_025114.4(CEP290):c.6276_6280dup (p.Arg2094fs)
NM_025114.4(CEP290):c.6325G>T (p.Glu2109Ter)
NM_025114.4(CEP290):c.6337A>T (p.Lys2113Ter)
NM_025114.4(CEP290):c.6357+1G>A	rs1196938557

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