ClinVar Miner

List of variants reported as pathogenic for Usher syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043

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