ClinVar Miner

List of variants reported for USH2A-related disorder by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) rs2034938852
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367

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