ClinVar Miner

List of variants in gene USH2A reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 11
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HGVS dbSNP
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043

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