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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)	rs35365413	0.00248
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	rs147876778	0.00119
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)	rs139207764	0.00005
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp)	rs373270306	0.00001
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys)	rs35010099
NM_019098.5(CNGB3):c.1663-5T>G	rs964530890
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro)	rs1554607553
NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu)	rs1554604833
NM_019098.5(CNGB3):c.643G>C (p.Asp215His)	rs1174949911
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro)	rs1189928623
NM_019098.5(CNGB3):c.991-3T>G	rs773372519

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