ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 24
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HGVS dbSNP
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.2(USH2A):c.9335_9371+8063del
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10450C>T (p.Arg3484Ter) rs111033379
NM_206933.3(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.3(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265
NM_206933.3(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.3(USH2A):c.11231+1G>T rs111033382
NM_206933.3(USH2A):c.1227G>C (p.Trp409Cys) rs397517979
NM_206933.3(USH2A):c.12294+1G>C rs111033526
NM_206933.3(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.3(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982
NM_206933.3(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13313G>A (p.Trp4438Ter) rs111033417
NM_206933.3(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.3(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.3(USH2A):c.3158-6A>G rs397518010
NM_206933.3(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.3(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_206933.3(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) rs111033268
NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) rs727503723
NM_206933.3(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.3(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263

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