ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Ophthalmology and Visual Sciences Kyoto University and "benign" from any submitter

Minimum review status of the submission from Department of Ophthalmology and Visual Sciences Kyoto University: Collection method of the submission from Department of Ophthalmology and Visual Sciences Kyoto University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004

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