ClinVar Miner

List of variants in gene RPE65 reported as likely pathogenic by Ocular Genomics Institute, Massachusetts Eye and Ear

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286

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