ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Diagnostics Laboratory, Seoul National University Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from Molecular Diagnostics Laboratory, Seoul National University Hospital: Collection method of the submission from Molecular Diagnostics Laboratory, Seoul National University Hospital:
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_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_000135.4(FANCA):c.3066+1G>T rs587783028

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