ClinVar Miner

List of variants in gene CEP290 reported as benign for Leber congenital amaurosis 10

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793

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