ClinVar Miner

List of variants in gene RPE65 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000329.3(RPE65):c.1338+1G>A rs1057518922

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