ClinVar Miner

List of variants reported as likely pathogenic 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_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_181458.4(PAX3):c.281G>T (p.Gly94Val) rs2106203654

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