List of variants in gene combination CEP290, LOC129390514 reported as uncertain significance for Leber congenital amaurosis

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)	rs755933899	0.00008
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)	rs773459272	0.00002
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)	rs762397066

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