List of variants in gene CEP290, LOC129390514 studied for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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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.6277del (p.Val2093fs)	rs771454167	0.00002
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)	rs773459272	0.00002
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)	rs762397066
NM_025114.4(CEP290):c.[3847C>T];[6271-1G>A]

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