ClinVar Miner

List of variants in gene GNAT2 studied for color vision disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
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.506C>A (p.Pro169His)
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.821T>C (p.Phe274Ser) rs1649516067
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.