ClinVar Miner

Variants with conflicting interpretations "likely benign" from Department of Ophthalmology and Visual Sciences Kyoto University and "pathogenic" 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: 4
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_018418.4(SPATA7):c.20_23del rs527236050

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