ClinVar Miner

List of variants studied for Usher syndrome type 2A by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001

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