ClinVar Miner

List of variants in gene GNAT2 studied for Achromatopsia 4

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Total variants: 46
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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.-53-76A>G rs116819755 0.00917
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) rs34723289 0.00516
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_001377295.2(GNAT2):c.*50G>C rs116688317 0.00311
NM_001377295.2(GNAT2):c.-53-78G>A rs532113128 0.00275
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_001377295.2(GNAT2):c.427G>A (p.Ala143Thr) rs149421007 0.00038
NM_001377295.2(GNAT2):c.14C>T (p.Ala5Val) rs199503029 0.00029
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) rs12046787 0.00028
NM_001377295.2(GNAT2):c.591-9T>C rs199666763 0.00024
NM_001377295.2(GNAT2):c.928C>T (p.Leu310Phe) rs200883344 0.00020
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) rs61754627 0.00009
NM_001377295.2(GNAT2):c.246G>A (p.Leu82=) rs192176115 0.00006
NM_001377295.2(GNAT2):c.461+10A>T rs772538094 0.00006
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.107T>G (p.Leu36Arg) rs1240543072 0.00001
NM_001377295.2(GNAT2):c.139A>G (p.Ser47Gly) rs146606352 0.00001
NM_001377295.2(GNAT2):c.213T>G (p.Ala71=) rs577261001 0.00001
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) rs200316722 0.00001
NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter) rs1403825722 0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) rs748981899 0.00001
NM_001377295.2(GNAT2):c.*102C>A rs572222112
NM_001377295.2(GNAT2):c.-53-35C>G rs886045029
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln) rs140250745
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_001377295.2(GNAT2):c.303+365_461+974del
NM_001377295.2(GNAT2):c.303+365_461+974dup
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer) rs1557918911
NM_001377295.2(GNAT2):c.591-2A>C rs1557918638
NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys) rs1557918635
NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_001377295.2(GNAT2):c.808AAG[1] (p.Lys271del) rs1268228697
NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs) rs2101121827
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) rs779967692
NM_001377295.2(GNAT2):c.886T>C (p.Tyr296His) rs757147586
NM_001377295.2(GNAT2):c.943G>A (p.Asp315Asn) rs950519744
NM_001377295.2(GNAT2):c.955del (p.Ile319fs) rs1557917535

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