ClinVar Miner

Variants with conflicting interpretations "likely benign" from Department of Ophthalmology and Visual Sciences Kyoto University and "uncertain significance" 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: 12
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124 0.00004
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001

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