ClinVar Miner

List of variants reported as benign for Pendred syndrome by ClinGen Hearing Loss Variant Curation Expert Panel

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003

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