ClinVar Miner

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

Included ClinVar conditions (50):
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ClinVar version:
Total variants: 23
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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_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941 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.276+6T>C rs1567644165
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_014336.5(AIPL1):c.857A>T (p.Asp286Val) rs1567635290
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.801-25_843del rs1566674809
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.2072G>A (p.Trp691Ter) rs1558127317
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter) rs772794324
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) rs1558133731
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro) rs114630940
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.410del (p.Pro137fs) rs1558057153
NM_201253.3(CRB1):c.70+1G>A rs1237424465

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