ClinVar Miner

List of variants reported as benign for Pendred syndrome by The Core Laboratory in Medical Center of Clinical Research, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine

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.147C>G (p.Ser49Arg) rs756969021 0.00004

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