ClinVar Miner

List of variants in gene CEP290 reported as likely pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.6871C>T (p.Gln2291Ter)

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