ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Ophthalmology and Visual Sciences Kyoto University and "likely 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_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116

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