ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 8 by Laboratory of Genetics in Ophthalmology, Institut Imagine

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys) rs1482942636 0.00001
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.2693A>G (p.Asn898Ser) rs780489778

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