ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Medical Genetics, University of Torino and "uncertain significance" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, University of Torino: Collection method of the submission from Laboratory of Medical Genetics, University of Torino:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_007327.4(GRIN1):c.421G>A (p.Val141Met) rs1293947350

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