ClinVar Miner

Variants with conflicting interpretations "other" from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center: Collection method of the submission from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center:
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_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017

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