ClinVar Miner

List of variants in gene CEP290 reported as likely benign by PreventionGenetics

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Total variants: 36
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HGVS dbSNP
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.3(CEP290):c.1386C>T (p.Val462=) rs886038689
NM_025114.3(CEP290):c.1669C>T (p.Arg557Cys) rs561018129
NM_025114.3(CEP290):c.1824+16dupT rs746448124
NM_025114.3(CEP290):c.2016A>G (p.Thr672=) rs886038690
NM_025114.3(CEP290):c.2052+17A>G rs886038691
NM_025114.3(CEP290):c.2052+27T>C rs748630707
NM_025114.3(CEP290):c.2052+30delT rs11358611
NM_025114.3(CEP290):c.2217+45T>C rs45461003
NM_025114.3(CEP290):c.2368-36T>G rs547843877
NM_025114.3(CEP290):c.2368-37T>G rs115837670
NM_025114.3(CEP290):c.2483+7G>T rs886038692
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.250+28G>C rs886038693
NM_025114.3(CEP290):c.251-11T>A rs200666995
NM_025114.3(CEP290):c.2586T>C (p.Asn862=) rs886038695
NM_025114.3(CEP290):c.2587-19T>C rs755086278
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.2991+39A>G rs147626659
NM_025114.3(CEP290):c.3310-48C>A rs764488172
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.4302+15T>C rs886038696
NM_025114.3(CEP290):c.4705-18C>T rs199751805
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.5013-21A>G rs368215443
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.6136-19T>G rs377613416
NM_025114.3(CEP290):c.6162T>C (p.His2054=) rs867670449
NM_025114.3(CEP290):c.6646-16T>C rs367543543
NM_025114.3(CEP290):c.6819-34G>T rs750838874
NM_025114.3(CEP290):c.7034+40T>A rs184044181
NM_025114.3(CEP290):c.942+28T>C rs56149649

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