ClinVar Miner

List of variants in gene CEP290 reported by PreventionGenetics

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Total variants: 65
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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.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1669C>T (p.Arg557Cys) rs561018129
NM_025114.3(CEP290):c.1824+16dupT rs746448124
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
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.2055T>C (p.Ala685=) rs45465996
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.251-10A>T rs190383141
NM_025114.3(CEP290):c.251-11T>A rs200666995
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2554C>A (p.Gln852Lys) rs886038694
NM_025114.3(CEP290):c.2586T>C (p.Asn862=) rs886038695
NM_025114.3(CEP290):c.2587-19T>C rs755086278
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2817+48A>G rs76460170
NM_025114.3(CEP290):c.2818-50G>C rs2471532
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.297+36A>G rs45468703
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.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4302+15T>C rs886038696
NM_025114.3(CEP290):c.442-19T>A rs113132803
NM_025114.3(CEP290):c.4704+46delT rs11356711
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.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5227-43G>A rs2468245
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.5709+18C>A rs7973969
NM_025114.3(CEP290):c.5709+25A>C rs17015438
NM_025114.3(CEP290):c.5709+45G>C rs45477793
NM_025114.3(CEP290):c.6136-19T>G rs377613416
NM_025114.3(CEP290):c.6162T>C (p.His2054=) rs867670449
NM_025114.3(CEP290):c.6357+20A>T rs7971699
NM_025114.3(CEP290):c.6522+12dupT rs11405846
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.7035-38C>G rs45477492
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_025114.3(CEP290):c.942+28T>C rs56149649

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