ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by Institute of Vision Research, Yonsei University College of Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
NM_018418.5(SPATA7):c.[388C>T];[657del]
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]

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