ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 1 by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro) rs1692619812

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