ClinVar Miner

List of variants studied for Achromatopsia 4 by Genome-Nilou Lab

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001377295.2(GNAT2):c.546G>A (p.Thr182=) rs1799875 0.35862
NM_001377295.2(GNAT2):c.-32A>G rs2304355 0.12857
NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile) rs3738766 0.02487
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) rs12046787 0.00028
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) rs61754627 0.00009
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His) rs368906691 0.00003
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) rs754414120 0.00002
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr) rs753014058 0.00001
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) rs200316722 0.00001
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) rs140788789 0.00001
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) rs779967692

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