ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by GeneDx

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Total variants: 22
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HGVS dbSNP
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.2446C>T (p.Arg816Cys) rs374656545
NM_025114.3(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.3(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.3905A>C (p.Gln1302Pro) rs1064794650
NM_025114.3(CEP290):c.3962T>C (p.Met1321Thr) rs1346175871
NM_025114.3(CEP290):c.3980G>A (p.Gly1327Asp) rs959651787
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4704+16A>G rs559388032
NM_025114.3(CEP290):c.4C>T (p.Pro2Ser) rs1064795491
NM_025114.3(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.3(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.3(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893
NM_025114.3(CEP290):c.551A>G (p.Gln184Arg) rs374752439
NM_025114.3(CEP290):c.5973G>C (p.Lys1991Asn) rs1064795773
NM_025114.3(CEP290):c.6023C>T (p.Ala2008Val) rs376307540
NM_025114.3(CEP290):c.6444T>A (p.Asn2148Lys) rs368101871
NM_025114.3(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378
NM_025114.3(CEP290):c.722A>G (p.Lys241Arg) rs199790246

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