ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Genetics in Ophthalmology, Institut Imagine and "uncertain significance" from any submitter

Minimum review status of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine: Collection method of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine:
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_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291

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