ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367

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