ClinVar Miner

List of variants studied for Leber congenital amaurosis by Molecular Genetics Laboratory,Institute for Ophthalmic Research

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Total variants: 13
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NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
NM_020366.3(RPGRIP1):c.2368-2A>G rs1064797182
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128

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