ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 9 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_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428

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