ClinVar Miner

List of variants in gene CEP290 reported as benign for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.4(CEP290):c.1624-5T>C rs142742071
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.251-10A>T rs190383141
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
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.3465G>A (p.Leu1155=) rs150138016
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
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.829G>C (p.Glu277Gln) rs45502896
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425

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