ClinVar Miner

List of variants in gene CEP290 reported by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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Total variants: 8
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NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) rs774079924
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.4(CEP290):c.5587-1G>C rs968692633
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020

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