ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome by Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter) rs756120041

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