ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 2A 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_001354604.2(MITF):c.644dup (p.His215fs)	rs2107483975
NM_001354604.2(MITF):c.956-1G>A	rs1057519327
Single allele

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