ClinVar Miner

List of variants reported as benign for color vision disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_019098.4(CNGB3):c.*1881T>C rs990193 0.91428
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_006204.4(PDE6C):c.1270-7A>G rs616522 0.73216
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_007348.4(ATF6):c.1896A>G (p.Ser632=) rs9482 0.63750
NM_019098.4(CNGB3):c.*1639C>A rs990192 0.58635
NM_007348.4(ATF6):c.1434-3T>A rs2257107 0.48568
NM_006204.4(PDE6C):c.1935+10C>A rs1409332 0.43098
NM_019098.5(CNGB3):c.852+55C>T rs3735967 0.39180
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550 0.36884
NM_001377295.2(GNAT2):c.546G>A (p.Thr182=) rs1799875 0.35862
NM_019098.5(CNGB3):c.1481-145A>C rs13258590 0.33289
NM_001385125.1(OPN1SW):c.357A>C (p.Gly119=) rs1799922 0.29989
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228 0.23737
NM_007348.4(ATF6):c.199A>G (p.Met67Val) rs1058405 0.21366
NM_001298.3(CNGA3):c.72T>C (p.Asp24=) rs6727412 0.13838
NM_001377295.2(GNAT2):c.-32A>G rs2304355 0.12857
NM_007348.4(ATF6):c.105C>T (p.Leu35=) rs2070151 0.11890
NM_007348.4(ATF6):c.309G>A (p.Ser103=) rs2271012 0.11573
NM_006205.3(PDE6H):c.-59G>C rs11056264 0.10957
NM_019098.4(CNGB3):c.*1638G>A rs28471019 0.09998
NM_007348.4(ATF6):c.270T>C (p.Pro90=) rs2271013 0.09194
NM_006205.3(PDE6H):c.195A>G (p.Pro65=) rs2230872 0.08891
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149 0.07060
NM_001298.3(CNGA3):c.*838T>C rs13395005 0.06587
NM_001298.2(CNGA3):c.-286C>T rs13408372 0.06490
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_006204.4(PDE6C):c.1270-9C>T rs11187564 0.05345
NM_019098.5(CNGB3):c.1179-38T>C rs3735969 0.05147
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_001298.3(CNGA3):c.*574C>T rs13429817 0.03505
NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile) rs3738766 0.02487
NM_019098.5(CNGB3):c.*778T>C rs16915859 0.01933
NM_019098.5(CNGB3):c.*389A>C rs16915861 0.01929
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_006205.3(PDE6H):c.*301A>G rs77796036 0.01482
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01129
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_006205.3(PDE6H):c.-73C>A rs188351941 0.00560
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_001298.3(CNGA3):c.353A>G (p.Gln118Arg) rs142837782 0.00305
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_001298.3(CNGA3):c.1626C>T (p.Ser542=) rs78583671 0.00275
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) rs76999928 0.00210
NM_006205.3(PDE6H):c.*319T>C rs3748304 0.00160
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_019098.5(CNGB3):c.494-11T>C rs543970676 0.00062
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=) rs112847374 0.00039
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) rs12046787 0.00028
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_019098.5(CNGB3):c.*997A>G rs141428300 0.00014
NM_001298.3(CNGA3):c.102-16A>G rs2279859
NM_001298.3(CNGA3):c.215+151T>C rs937725
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978
NM_007348.4(ATF6):c.1605-154G>A
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.*1303G>A rs17683284
NM_019098.5(CNGB3):c.*735A>G rs73269601
NM_019098.5(CNGB3):c.*915G>C rs189446254
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.494-11dup rs36008065
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met) rs5986963
NM_020061.6(OPN1LW):c.513G>T (p.Val171=) rs5986964

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