ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A by Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.956-1G>A rs1057519327
Single allele

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