ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic by GeneDx

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Total variants: 22
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HGVS dbSNP
NM_007123.5(USH2A):c.3812-3_3837dup rs780071028
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10571C>A (p.Pro3524His) rs1064793288
NM_206933.3(USH2A):c.10741-1G>T rs1064795279
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.15267_15275delinsC (p.Leu5089fs) rs1553248812
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2384G>A (p.Cys795Tyr) rs776202248
NM_206933.3(USH2A):c.3959C>A (p.Pro1320His) rs771924569
NM_206933.3(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.7595-2A>G rs1064795047
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287

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