ClinVar Miner

List of variants reported as likely pathogenic for achromatopsia 3 by Molecular Genetics Laboratory,Institute for Ophthalmic Research

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 11
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HGVS dbSNP
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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