ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for Senior-Loken syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.5012+2T>C rs1369768287
NM_025114.3(CEP290):c.6645+1G>A rs201218801

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