ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 18
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HGVS dbSNP
NM_025114.3(CEP290):c.1440A>G (p.Glu480=) rs777299440
NM_025114.3(CEP290):c.1517G>A (p.Arg506His) rs866571949
NM_025114.3(CEP290):c.2446C>T (p.Arg816Cys) rs374656545
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.3408A>G (p.Gln1136=) rs11836796
NM_025114.3(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.3(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.3(CEP290):c.3626C>G (p.Ser1209Cys) rs753350609
NM_025114.3(CEP290):c.4215G>A (p.Met1405Ile) rs797045457
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931
NM_025114.3(CEP290):c.563A>T (p.Asp188Val) rs746511786
NM_025114.3(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235
NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.3(CEP290):c.814G>A (p.Asp272Asn) rs866480852

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