ClinVar Miner

List of variants in gene CEP290 reported as benign for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_025114.4(CEP290):c.1522+6C>T rs148446546
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.4(CEP290):c.1624-5T>C rs142742071
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5227-9A>G rs571981633
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371
NM_025114.4(CEP290):c.6960+10G>A rs75011402
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425

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