ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)	rs199927859	0.00001
NM_001354604.2(MITF):c.1180-2A>G	rs1064797294
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)	rs267606931

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