RS121918844 RPE65
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What This Variant Does
"This SNP is included in a curated list of mutations useful to include on an Ashkenazi Jews screening..."
Associated Conditions
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Leber congenital amaurosis
Leber congenital amaurosis 2
Retinitis pigmentosa 20
RPE65-related recessive retinopathy
Leber congenital amaurosis 2
Retinitis pigmentosa 20
Retinal dystrophy
Other Variants in RPE65