ClinVar Miner

List of variants studied for Joubert syndrome 5 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6135+1G>A rs2035114607

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