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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)	rs62653015	0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)	rs748559081	0.00001
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)	rs1064797304
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)	rs752193525
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)	rs61751266
NM_020366.4(RPGRIP1):c.2368-2A>G	rs1064797182
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)	rs1641970512
NM_025114.4(CEP290):c.102+1G>T	rs2040637111
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)	rs886042360
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)	rs772794324
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)	rs114630940
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)	rs1064797128

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