ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Dept Of Ophthalmology, Nagoya University and "uncertain significance" from any submitter

Minimum review status of the submission from Dept Of Ophthalmology, Nagoya University: Collection method of the submission from Dept Of Ophthalmology, Nagoya University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met) rs761619791 0.00001
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu) rs939932729
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179

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