ClinVar Miner

List of variants reported for Waardenburg syndrome type 1 by Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.281G>T (p.Gly94Val) rs2106203654
NM_181458.4(PAX3):c.586+2T>A rs2106196576
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382

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