ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_001201397.1(EDNRB):c.18T>A (p.Cys6Ter)
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903
NM_001354604.2(MITF):c.1180-2A>G rs1064797294
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931

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