ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by Sharon lab,Hadassah-Hebrew University Medical Center

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Total variants: 7
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NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) rs781725943
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744

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