List of variants in gene RPE65 reported as likely pathogenic 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)
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Total variants: 5

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HGVS	dbSNP
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	rs1191496583
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.[1067dup];[1543C>T]

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