ClinVar Miner

List of variants in gene CEP290 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 8
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HGVS dbSNP
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.3(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.3(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025

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