ClinVar Miner

List of variants in gene CRB1 reported as likely pathogenic for Leber congenital amaurosis

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Total variants: 6
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NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752

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