ClinVar Miner

List of variants reported as pathogenic for Hearing impairment by Center for Statistical Genetics, Columbia University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718

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