ClinVar Miner

List of variants reported as pathogenic for Pendred syndrome by Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.997dup (p.Arg333fs) rs431905486

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