ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genetics Department, University Hospital of Toulouse and "pathogenic" from any submitter

Minimum review status of the submission from Genetics Department, University Hospital of Toulouse: Collection method of the submission from Genetics Department, University Hospital of Toulouse:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855

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