ClinVar Miner

Variants with conflicting interpretations "pathogenic" from FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre and "uncertain significance" from any submitter

Minimum review status of the submission from FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre: Collection method of the submission from FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_213653.4(HJV):c.497A>G (p.His166Arg) rs1553769663

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