ClinVar Miner

List of variants reported as likely pathogenic by Molecular Genetics Laboratory,Institute for Ophthalmic Research

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Total variants: 28
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HGVS dbSNP
NM_000283.3(PDE6B):c.1390C>T (p.Gln464Ter)
NM_000283.3(PDE6B):c.1832+1G>T rs370758397
NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000283.4(PDE6B):c.1258-2A>G
NM_000283.4(PDE6B):c.221dup (p.Val75fs)
NM_001199835.1(SNX10):c.284G>A (p.Arg95His) rs897553060
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.869G>A (p.Arg290His) rs199837807
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001377295.2(GNAT2):c.808AAG[1] (p.Lys271del) rs1268228697
NM_001621.5(AHR):c.1861C>T (p.Gln621Ter) rs1562482694
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser) rs535212284
NM_005272.4(GNAT2):c.107T>G (p.Leu36Arg) rs1240543072
NM_005272.4(GNAT2):c.139A>G (p.Ser47Gly) rs146606352
NM_005272.4(GNAT2):c.937C>T (p.Arg313Ter) rs748981899
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984
NM_012293.3(PXDN):c.2459A>G (p.Gln820Arg) rs1558489563
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1397T>A (p.Met466Lys) rs35010099
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306
NM_019098.4(CNGB3):c.1663-5T>G rs964530890
NM_019098.4(CNGB3):c.1751T>C (p.Leu584Pro) rs1554607553
NM_019098.4(CNGB3):c.1823T>A (p.Val608Glu) rs1554604833
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.643G>C (p.Asp215His) rs1174949911
NM_019098.4(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019098.4(CNGB3):c.991-3T>G rs773372519

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