ClinVar Miner

List of variants reported as uncertain significance for blindness (disorder)

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 977
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_145200.5(CABP4):c.*1873C>T rs867214951 0.12553
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_001004334.4(GPR179):c.*824G>A rs191828655 0.00537
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) rs34723289 0.00516
NM_145200.5(CABP4):c.*1636A>G rs532435181 0.00479
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00467
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_145200.5(CABP4):c.*2709G>A rs189502443 0.00380
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_001004334.4(GPR179):c.*554C>T rs138942149 0.00319
NM_001377295.2(GNAT2):c.*50G>C rs116688317 0.00311
NM_019098.5(CNGB3):c.*29G>T rs138432513 0.00309
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_001377295.2(GNAT2):c.-53-78G>A rs532113128 0.00275
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg) rs146253044 0.00270
NM_198506.5(LRIT3):c.222G>A (p.Ala74=) rs148450929 0.00264
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_006204.4(PDE6C):c.2501A>G (p.Glu834Gly) rs148661165 0.00218
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229 0.00217
NM_006204.4(PDE6C):c.864+13C>T rs199559247 0.00216
NM_001298.2(CNGA3):c.-383A>G rs143449407 0.00203
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_144499.3(GNAT1):c.*551C>T rs116031664 0.00179
NM_019098.5(CNGB3):c.*1459C>T rs192543896 0.00178
NM_145200.5(CABP4):c.*2668G>A rs116414393 0.00171
NM_145200.5(CABP4):c.-27G>A rs192302421 0.00167
NM_004727.3(SLC24A1):c.*721G>A rs549899114 0.00160
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=) rs200934141 0.00157
NM_006205.3(PDE6H):c.*71C>T rs144778897 0.00150
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_019098.5(CNGB3):c.1732A>T (p.Thr578Ser) rs145247723 0.00145
NM_145200.5(CABP4):c.*1117C>A rs565802060 0.00137
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val) rs192426710 0.00128
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715 0.00127
NM_145200.5(CABP4):c.*1190T>C rs7127024 0.00126
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) rs112573107 0.00124
NM_145200.5(CABP4):c.*1291A>G rs146149609 0.00124
NM_019098.4(CNGB3):c.-32T>C rs376141938 0.00123
NM_001298.3(CNGA3):c.*178C>T rs113687827 0.00122
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg) rs150260103 0.00122
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser) rs139456217 0.00121
NM_001298.3(CNGA3):c.1968G>A (p.Met656Ile) rs147293818 0.00120
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001378477.3(NYX):c.*103G>A rs750048192 0.00105
NM_006204.4(PDE6C):c.2425A>C (p.Arg809=) rs1051926 0.00104
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=) rs137950660 0.00102
NM_000539.3(RHO):c.*1455T>C rs552362456 0.00096
NM_001004334.4(GPR179):c.2895G>A (p.Leu965=) rs200583958 0.00096
NM_019098.5(CNGB3):c.*1183T>C rs78927155 0.00096
NM_000539.3(RHO):c.*1599G>A rs576980794 0.00086
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro) rs138218384 0.00086
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001004334.4(GPR179):c.5868C>T (p.Ser1956=) rs202228440 0.00082
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_006204.4(PDE6C):c.466C>T (p.Pro156Ser) rs145591492 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_001298.3(CNGA3):c.566+6C>T rs199558955 0.00080
NM_145200.5(CABP4):c.*3043C>T rs571674945 0.00080
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=) rs185715311 0.00079
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) rs146764702 0.00073
NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=) rs181942192 0.00072
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) rs144637286 0.00070
NM_001004334.4(GPR179):c.976G>A (p.Ala326Thr) rs201963254 0.00067
NM_001004334.4(GPR179):c.991+4T>C rs375898051 0.00067
NM_145200.5(CABP4):c.*683A>G rs146218513 0.00066
NM_004727.3(SLC24A1):c.*1699T>C rs772057151 0.00065
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) rs201086495 0.00063
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val) rs182054858 0.00063
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794 0.00062
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_001004334.4(GPR179):c.5416G>A (p.Ala1806Thr) rs201654499 0.00054
NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg) rs200392643 0.00054
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_145200.5(CABP4):c.*681A>G rs543961015 0.00053
NM_019098.5(CNGB3):c.*51C>T rs189210452 0.00051
NM_145200.5(CABP4):c.*702C>T rs574323434 0.00051
NM_145200.5(CABP4):c.522G>A (p.Ser174=) rs143344989 0.00051
NM_004727.3(SLC24A1):c.*2041C>T rs138458275 0.00050
NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu) rs181844178 0.00049
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_145200.5(CABP4):c.651+15G>A rs199749736 0.00049
NM_001252024.2(TRPM1):c.*664A>G rs573027667 0.00048
NM_001252024.2(TRPM1):c.*229G>A rs543341268 0.00047
NM_000539.3(RHO):c.*948T>C rs529674071 0.00046
NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=) rs138216783 0.00045
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln) rs188852505 0.00044
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=) rs181911949 0.00044
NM_001378477.3(NYX):c.-57+46T>C rs777981530 0.00044
NM_145200.5(CABP4):c.*1223G>A rs555941085 0.00044
NM_001004334.4(GPR179):c.1723C>T (p.Arg575Cys) rs200801090 0.00043
NM_001004334.4(GPR179):c.691C>T (p.Pro231Ser) rs200731095 0.00043
NM_000539.3(RHO):c.*1179T>C rs569761830 0.00042
NM_004727.3(SLC24A1):c.*40C>A rs371028086 0.00042
NM_000539.3(RHO):c.*741T>C rs753496233 0.00041
NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile) rs375878760 0.00041
NM_001378477.3(NYX):c.*383G>T rs148699627 0.00040
NM_001004334.4(GPR179):c.1533C>T (p.Gly511=) rs200421731 0.00039
NM_001377295.2(GNAT2):c.427G>A (p.Ala143Thr) rs149421007 0.00038
NM_006204.4(PDE6C):c.2087C>T (p.Thr696Met) rs41290222 0.00038
NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala) rs202245263 0.00036
NM_006204.4(PDE6C):c.1935+13C>T rs199704992 0.00036
NM_006205.3(PDE6H):c.*358T>G rs558075003 0.00036
NM_006205.3(PDE6H):c.*369A>G rs571862339 0.00036
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) rs143131185 0.00036
NM_001004334.4(GPR179):c.3752C>T (p.Ser1251Leu) rs368643450 0.00034
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) rs190014426 0.00034
NM_006204.4(PDE6C):c.792G>A (p.Ala264=) rs375235184 0.00034
NM_019098.5(CNGB3):c.*737T>C rs146999298 0.00034
NM_144499.3(GNAT1):c.*1274G>A rs891084737 0.00034
NM_198506.5(LRIT3):c.*1157T>C rs572997541 0.00034
NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=) rs370822722 0.00033
NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His) rs117105175 0.00033
NM_004727.3(SLC24A1):c.*1628C>A rs983795023 0.00033
NM_001252024.2(TRPM1):c.1795-8C>G rs183856964 0.00032
NM_144499.3(GNAT1):c.*1369G>T rs563891409 0.00032
NM_001004334.4(GPR179):c.5927G>A (p.Arg1976His) rs200274687 0.00031
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375 0.00031
NM_001298.3(CNGA3):c.1116C>T (p.Pro372=) rs201649850 0.00031
NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg) rs144099488 0.00031
NM_006204.4(PDE6C):c.*247A>C rs563701427 0.00031
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe) rs78239264 0.00031
NM_001252024.2(TRPM1):c.*482A>G rs188493932 0.00029
NM_001252024.2(TRPM1):c.3919G>A (p.Glu1307Lys) rs200906550 0.00029
NM_001377295.2(GNAT2):c.14C>T (p.Ala5Val) rs199503029 0.00029
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) rs371059164 0.00029
NM_144499.3(GNAT1):c.*1954C>T rs377634380 0.00029
NM_145200.5(CABP4):c.10G>C (p.Glu4Gln) rs143494300 0.00029
NM_001004334.4(GPR179):c.3656_3657del (p.Pro1219fs) rs779266036 0.00028
NM_145200.5(CABP4):c.309C>T (p.Ser103=) rs555315887 0.00028
NM_145200.5(CABP4):c.318C>T (p.Asp106=) rs375330570 0.00028
NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=) rs202130526 0.00027
NM_004727.3(SLC24A1):c.1891-6T>C rs372058206 0.00027
NM_145200.5(CABP4):c.*1158A>G rs539741322 0.00027
NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=) rs34915313 0.00026
NM_001252024.2(TRPM1):c.30C>T (p.Thr10=) rs180878088 0.00026
NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr) rs61756692 0.00026
NM_144499.3(GNAT1):c.*5C>T rs554301590 0.00026
NM_001004334.4(GPR179):c.989G>T (p.Gly330Val) rs372908857 0.00025
NM_019098.5(CNGB3):c.*1371G>T rs372688369 0.00025
NM_145200.5(CABP4):c.*1040C>A rs186530202 0.00025
NM_000283.4(PDE6B):c.*545T>C rs149186081 0.00024
NM_001252024.2(TRPM1):c.3970T>C (p.Cys1324Arg) rs201888584 0.00024
NM_001377295.2(GNAT2):c.591-9T>C rs199666763 0.00024
NM_004727.3(SLC24A1):c.*809G>A rs755760960 0.00024
NM_145200.5(CABP4):c.214A>C (p.Asn72His) rs143788427 0.00024
NM_000283.4(PDE6B):c.*271G>A rs552530901 0.00023
NM_001252024.2(TRPM1):c.3294-15G>A rs376352901 0.00023
NM_019098.5(CNGB3):c.1117T>C (p.Trp373Arg) rs145619853 0.00023
NM_001298.3(CNGA3):c.1949A>C (p.Glu650Ala) rs139368657 0.00022
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) rs138934573 0.00022
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_001004334.4(GPR179):c.*453C>T rs539092082 0.00021
NM_001004334.4(GPR179):c.3900A>T (p.Ile1300=) rs200167781 0.00021
NM_001252024.2(TRPM1):c.795G>C (p.Leu265=) rs371394864 0.00021
NM_001298.2(CNGA3):c.-271G>A rs192111633 0.00021
NM_001298.2(CNGA3):c.-388C>G rs748374868 0.00021
NM_006204.4(PDE6C):c.*235A>T rs543722110 0.00021
NM_198506.5(LRIT3):c.*1038C>T rs182511132 0.00021
NM_198506.5(LRIT3):c.1029G>T (p.Val343=) rs199943498 0.00021
NM_198506.5(LRIT3):c.30C>A (p.Val10=) rs373793629 0.00021
NM_000539.3(RHO):c.630C>T (p.Val210=) rs371192803 0.00020
NM_001377295.2(GNAT2):c.928C>T (p.Leu310Phe) rs200883344 0.00020
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_001004334.4(GPR179):c.*454G>A rs138028812 0.00019
NM_001004334.4(GPR179):c.3508C>T (p.Arg1170Trp) rs201856624 0.00019
NM_001004334.4(GPR179):c.5606A>C (p.Gln1869Pro) rs201516786 0.00019
NM_006204.4(PDE6C):c.2144+15T>C rs201956926 0.00019
NM_006204.4(PDE6C):c.939+4C>T rs371814026 0.00019
NM_019098.5(CNGB3):c.*798A>C rs886063157 0.00019
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter) rs151039691 0.00019
NM_198506.5(LRIT3):c.*626G>A rs550462658 0.00019
NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile) rs199662798 0.00019
NM_000541.5(SAG):c.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=) rs773508261 0.00018
NM_001252024.2(TRPM1):c.4367C>G (p.Thr1456Arg) rs61734297 0.00018
NM_001298.2(CNGA3):c.-326G>A rs886056487 0.00018
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu) rs141086649 0.00018
NM_019098.5(CNGB3):c.1204G>T (p.Val402Phe) rs139825253 0.00018
NM_001004334.4(GPR179):c.5083G>A (p.Glu1695Lys) rs199697891 0.00017
NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=) rs368601558 0.00017
NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=) rs185129255 0.00017
NM_019098.5(CNGB3):c.1178+6T>C rs151236891 0.00017
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00017
NM_001004334.4(GPR179):c.3568C>T (p.Arg1190Trp) rs200978744 0.00016
NM_001004334.4(GPR179):c.5859G>A (p.Glu1953=) rs370586289 0.00016
NM_001252024.2(TRPM1):c.2440-12T>A rs200151910 0.00016
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867 0.00016
NM_001298.3(CNGA3):c.*516T>C rs886056492 0.00016
NM_006205.3(PDE6H):c.237G>C (p.Gln79His) rs564659543 0.00016
NM_019098.5(CNGB3):c.*499G>C rs540507221 0.00016
NM_145200.5(CABP4):c.*394T>A rs1047325440 0.00016
NM_198506.5(LRIT3):c.1307T>C (p.Met436Thr) rs371356043 0.00016
NM_000283.4(PDE6B):c.1920+4G>A rs370313003 0.00015
NM_000539.3(RHO):c.310G>A (p.Val104Ile) rs144317206 0.00015
NM_001298.3(CNGA3):c.*60G>A rs546240673 0.00015
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) rs139652451 0.00015
NM_019098.5(CNGB3):c.*84C>T rs372938106 0.00015
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=) rs376750375 0.00014
NM_001004334.4(GPR179):c.6335C>T (p.Ala2112Val) rs542057732 0.00014
NM_001252024.2(TRPM1):c.*228C>T rs544752312 0.00014
NM_001252024.2(TRPM1):c.2297G>A (p.Arg766Gln) rs376234885 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=) rs372658740 0.00014
NM_004727.3(SLC24A1):c.309A>G (p.Thr103=) rs375495390 0.00014
NM_019098.5(CNGB3):c.*649A>G rs778028865 0.00014
NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp) rs201770811 0.00014
NM_145200.5(CABP4):c.*1413C>T rs563724143 0.00014
NM_198506.5(LRIT3):c.*1108A>G rs749828551 0.00014
NM_198506.5(LRIT3):c.1644G>A (p.Gly548=) rs528069315 0.00014
NM_000539.3(RHO):c.*1255T>C rs774496991 0.00013
NM_001004334.4(GPR179):c.1784+8C>T rs137860025 0.00013
NM_001004334.4(GPR179):c.3145G>A (p.Ala1049Thr) rs188307315 0.00013
NM_001298.3(CNGA3):c.*1330A>G rs558882744 0.00013
NM_004727.3(SLC24A1):c.-73A>G rs886051346 0.00013
NM_019098.5(CNGB3):c.*1470G>C rs568808064 0.00013
NM_019098.5(CNGB3):c.*293T>C rs141717983 0.00013
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_019098.5(CNGB3):c.624C>T (p.Asn208=) rs144347980 0.00013
NM_000843.4(GRM6):c.1537G>A (p.Val513Met) rs201396068 0.00012
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu) rs148496805 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_001252024.2(TRPM1):c.4781A>G (p.His1594Arg) rs200626726 0.00011
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_004727.3(SLC24A1):c.1925A>G (p.Gln642Arg) rs376244274 0.00011
NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=) rs368057501 0.00011
NM_019098.5(CNGB3):c.*108C>T rs1031324821 0.00011
NM_019098.5(CNGB3):c.1369G>A (p.Ala457Thr) rs192568942 0.00011
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) rs377730576 0.00011
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile) rs138320784 0.00011
NM_145200.5(CABP4):c.*2004G>T rs570209950 0.00011
NM_145200.5(CABP4):c.*2836C>T rs145684543 0.00011
NM_145200.5(CABP4):c.*2860A>T rs148932555 0.00011
NM_198506.5(LRIT3):c.*1322T>C rs146584985 0.00011
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000283.4(PDE6B):c.*309T>A rs559243245 0.00010
NM_000283.4(PDE6B):c.*504A>G rs886059550 0.00010
NM_001004334.4(GPR179):c.2248T>A (p.Ser750Thr) rs772088402 0.00010
NM_001004334.4(GPR179):c.3348C>T (p.Ser1116=) rs78284900 0.00010
NM_001004334.4(GPR179):c.5350C>A (p.Pro1784Thr) rs117255299 0.00010
NM_001298.3(CNGA3):c.129G>A (p.Ser43=) rs372489647 0.00010
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_004727.3(SLC24A1):c.*2083C>T rs886051360 0.00010
NM_004727.3(SLC24A1):c.-161G>A rs886051345 0.00010
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079 0.00010
NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln) rs369526115 0.00010
NM_144499.3(GNAT1):c.*728C>T rs774324843 0.00010
NM_145200.5(CABP4):c.*1390C>T rs564944745 0.00010
NM_001004334.4(GPR179):c.4459G>A (p.Val1487Met) rs187514572 0.00009
NM_001004334.4(GPR179):c.5382G>A (p.Met1794Ile) rs199726938 0.00009
NM_001004334.4(GPR179):c.5905G>A (p.Val1969Ile) rs144104172 0.00009
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) rs61754627 0.00009
NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala) rs779538393 0.00009
NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln) rs201549936 0.00009
NM_019098.5(CNGB3):c.1367G>A (p.Arg456His) rs150650617 0.00009
NM_019098.5(CNGB3):c.1982_1984dup (p.Asp661_Leu662insHis) rs780866922 0.00009
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) rs144474033 0.00009
NM_019098.5(CNGB3):c.419G>A (p.Arg140His) rs373216514 0.00009
NM_019098.5(CNGB3):c.503C>T (p.Thr168Met) rs755130011 0.00009
NM_144499.3(GNAT1):c.*903G>A rs912176233 0.00009
NM_145200.5(CABP4):c.398-8C>T rs372275562 0.00009
NM_000539.3(RHO):c.399C>A (p.Ile133=) rs372812523 0.00008
NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln) rs568763662 0.00008
NM_001004334.4(GPR179):c.3383G>A (p.Arg1128Gln) rs370214602 0.00008
NM_001252024.2(TRPM1):c.2088-8C>T rs762208610 0.00008
NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=) rs201668928 0.00008
NM_001377295.2(GNAT2):c.609G>T (p.Gly203=) rs551776784 0.00008
NM_004727.3(SLC24A1):c.1910C>T (p.Ala637Val) rs375420645 0.00008
NM_004727.3(SLC24A1):c.776T>C (p.Phe259Ser) rs370617242 0.00008
NM_006204.4(PDE6C):c.1935+4C>T rs373290960 0.00008
NM_019098.5(CNGB3):c.1376T>C (p.Met459Thr) rs375886578 0.00008
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_145200.5(CABP4):c.*2000A>G rs927120262 0.00008
NM_198506.5(LRIT3):c.*1191T>C rs574005997 0.00008
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala) rs761281062 0.00007
NM_000541.5(SAG):c.682G>A (p.Val228Met) rs377019945 0.00007
NM_001004334.4(GPR179):c.4047G>A (p.Ala1349=) rs201461684 0.00007
NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=) rs376705938 0.00007
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=) rs370122578 0.00007
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) rs986816548 0.00007
NM_001298.3(CNGA3):c.*1085G>A rs573445072 0.00007
NM_004727.3(SLC24A1):c.1890+6G>A rs375850066 0.00007
NM_004727.3(SLC24A1):c.1945-14C>G rs761704353 0.00007
NM_004727.3(SLC24A1):c.2884-9G>A rs374590721 0.00007
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012 0.00007
NM_019098.5(CNGB3):c.613A>C (p.Lys205Gln) rs760767009 0.00007
NM_144499.3(GNAT1):c.882C>T (p.Asp294=) rs775329814 0.00007
NM_145200.5(CABP4):c.*1527C>T rs547246461 0.00007
NM_145200.5(CABP4):c.816C>T (p.Leu272=) rs371952355 0.00007
NM_000283.4(PDE6B):c.*611G>A rs1374125665 0.00006
NM_000539.3(RHO):c.*551G>A rs933661466 0.00006
NM_001004334.4(GPR179):c.1217G>A (p.Arg406His) rs770208418 0.00006
NM_001004334.4(GPR179):c.2809G>A (p.Val937Ile) rs765764314 0.00006
NM_001004334.4(GPR179):c.3400C>T (p.Arg1134Trp) rs376874534 0.00006
NM_001004334.4(GPR179):c.3806C>T (p.Thr1269Met) rs754266923 0.00006
NM_001004334.4(GPR179):c.4188A>G (p.Gln1396=) rs201368251 0.00006
NM_001004334.4(GPR179):c.4739C>T (p.Pro1580Leu) rs778263955 0.00006
NM_001004334.4(GPR179):c.983C>T (p.Pro328Leu) rs370808770 0.00006
NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser) rs371356729 0.00006
NM_001252024.2(TRPM1):c.2285G>C (p.Arg762Thr) rs199546092 0.00006
NM_001252024.2(TRPM1):c.2888G>A (p.Arg963His) rs771644561 0.00006
NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala) rs376524533 0.00006
NM_001298.3(CNGA3):c.*1240C>T rs886056495 0.00006
NM_001298.3(CNGA3):c.*166G>A rs746901363 0.00006
NM_001298.3(CNGA3):c.*283G>A rs140093444 0.00006
NM_001298.3(CNGA3):c.-65G>C rs750494086 0.00006
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_001298.3(CNGA3):c.80G>A (p.Arg27His) rs769433253 0.00006
NM_001377295.2(GNAT2):c.246G>A (p.Leu82=) rs192176115 0.00006
NM_001377295.2(GNAT2):c.461+10A>T rs772538094 0.00006
NM_001378477.3(NYX):c.*140G>A rs1011570912 0.00006
NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala) rs533092441 0.00006
NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=) rs368241269 0.00006
NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=) rs201199381 0.00006
NM_004727.3(SLC24A1):c.76C>T (p.Leu26Phe) rs755508009 0.00006
NM_006204.4(PDE6C):c.124G>A (p.Val42Met) rs774245507 0.00006
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln) rs554790963 0.00006
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) rs142772345 0.00006
NM_006204.4(PDE6C):c.537G>T (p.Leu179=) rs752478645 0.00006
NM_006204.4(PDE6C):c.873C>T (p.Tyr291=) rs138970846 0.00006
NM_019098.5(CNGB3):c.115C>A (p.Gln39Lys) rs375530321 0.00006
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676 0.00006
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly) rs781481819 0.00006
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe) rs373286939 0.00006
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn) rs202240228 0.00006
NM_019098.5(CNGB3):c.720C>T (p.Leu240=) rs770816095 0.00006
NM_198506.5(LRIT3):c.327G>A (p.Glu109=) rs992042707 0.00006
NM_198506.5(LRIT3):c.492A>G (p.Arg164=) rs890325688 0.00006
NM_198506.5(LRIT3):c.919G>A (p.Gly307Arg) rs145061437 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000283.3(PDE6B):c.*797G>A rs1463865281 0.00005
NM_000539.3(RHO):c.*285G>A rs1487459358 0.00005
NM_000539.3(RHO):c.697-11G>A rs367631575 0.00005
NM_001004334.4(GPR179):c.1441C>T (p.Arg481Trp) rs374449680 0.00005
NM_001004334.4(GPR179):c.3411G>A (p.Ala1137=) rs539071271 0.00005
NM_001004334.4(GPR179):c.522C>T (p.Ile174=) rs377062748 0.00005
NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=) rs369315253 0.00005
NM_001378477.3(NYX):c.-57+99T>C rs945750526 0.00005
NM_001378477.3(NYX):c.368C>T (p.Ala123Val) rs778437203 0.00005
NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=) rs372995067 0.00005
NM_019098.5(CNGB3):c.1924G>A (p.Ala642Thr) rs371424750 0.00005
NM_019098.5(CNGB3):c.206T>C (p.Ile69Thr) rs777636370 0.00005
NM_019098.5(CNGB3):c.2342G>A (p.Arg781His) rs772444831 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_019098.5(CNGB3):c.968T>G (p.Phe323Cys) rs759770735 0.00005
NM_145200.5(CABP4):c.69G>A (p.Ala23=) rs775292545 0.00005
NM_000283.4(PDE6B):c.*381C>T rs1023673457 0.00004
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr) rs142936195 0.00004
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met) rs752852029 0.00004
NM_000283.4(PDE6B):c.789G>A (p.Thr263=) rs138789637 0.00004
NM_001004334.4(GPR179):c.1589G>A (p.Ser530Asn) rs371905233 0.00004
NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=) rs368426715 0.00004
NM_001252024.2(TRPM1):c.-101A>G rs574197357 0.00004
NM_001252024.2(TRPM1):c.1905C>T (p.His635=) rs377099385 0.00004
NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=) rs370305789 0.00004
NM_001252024.2(TRPM1):c.2542G>A (p.Ala848Thr) rs376766834 0.00004
NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val) rs761283836 0.00004
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn) rs376042913 0.00004
NM_001298.3(CNGA3):c.*1050A>G rs886056493 0.00004
NM_001298.3(CNGA3):c.144G>A (p.Pro48=) rs199670952 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.566+14G>A rs367748425 0.00004
NM_004727.3(SLC24A1):c.*1608C>T rs886051358 0.00004
NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=) rs565350549 0.00004
NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=) rs886051351 0.00004
NM_004727.3(SLC24A1):c.2917A>G (p.Met973Val) rs201810804 0.00004
NM_006204.4(PDE6C):c.-21C>T rs374900090 0.00004
NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys) rs757099539 0.00004
NM_019098.5(CNGB3):c.*206G>A rs886063159 0.00004
NM_019098.5(CNGB3):c.*570T>C rs965656666 0.00004
NM_019098.5(CNGB3):c.*731C>T rs886063158 0.00004
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) rs144605411 0.00004
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971 0.00004
NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val) rs140932384 0.00004
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465 0.00004
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr) rs375288585 0.00004
NM_019098.5(CNGB3):c.450G>T (p.Leu150Phe) rs201881873 0.00004
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr) rs150490913 0.00004
NM_144499.3(GNAT1):c.*2046G>C rs942292553 0.00004
NM_144499.3(GNAT1):c.*2267C>T rs886058693 0.00004
NM_144499.3(GNAT1):c.773C>T (p.Thr258Met) rs769077570 0.00004
NM_145200.5(CABP4):c.*1510T>C rs1303691994 0.00004
NM_198506.5(LRIT3):c.1238C>T (p.Ser413Phe) rs770968977 0.00004
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys) rs746783836 0.00003
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp) rs752303143 0.00003
NM_000539.3(RHO):c.*115G>A rs886057969 0.00003
NM_000539.3(RHO):c.*1294A>G rs1047324551 0.00003
NM_000539.3(RHO):c.*440C>G rs886057971 0.00003
NM_000539.3(RHO):c.440G>A (p.Arg147His) rs746468201 0.00003
NM_000843.4(GRM6):c.2240C>T (p.Ser747Leu) rs759761288 0.00003
NM_001004334.4(GPR179):c.*304A>G rs541537671 0.00003
NM_001004334.4(GPR179):c.*522C>T rs147084359 0.00003
NM_001004334.4(GPR179):c.131C>A (p.Pro44Gln) rs376962885 0.00003
NM_001004334.4(GPR179):c.1466G>A (p.Arg489Gln) rs551972571 0.00003
NM_001004334.4(GPR179):c.2332C>T (p.Arg778Cys) rs759512521 0.00003
NM_001004334.4(GPR179):c.2348C>T (p.Pro783Leu) rs200492514 0.00003
NM_001004334.4(GPR179):c.5774T>G (p.Phe1925Cys) rs770905475 0.00003
NM_001004334.4(GPR179):c.6351G>A (p.Trp2117Ter) rs766582295 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001252024.2(TRPM1):c.-143G>C rs995949757 0.00003
NM_001252024.2(TRPM1):c.3191T>G (p.Leu1064Arg) rs200561247 0.00003
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu) rs577672274 0.00003
NM_001298.2(CNGA3):c.-287C>T rs775933048 0.00003
NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu) rs370911601 0.00003
NM_001298.3(CNGA3):c.395+9C>T rs375494943 0.00003
NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln) rs746563618 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His) rs368906691 0.00003
NM_001378477.3(NYX):c.-56-45T>G rs755997910 0.00003
NM_001378477.3(NYX):c.787C>G (p.Arg263Gly) rs375834225 0.00003
NM_004727.3(SLC24A1):c.*1474A>G rs886051357 0.00003
NM_004727.3(SLC24A1):c.*2027G>A rs886051359 0.00003
NM_004727.3(SLC24A1):c.2782G>A (p.Val928Ile) rs536096021 0.00003
NM_004727.3(SLC24A1):c.2794-11C>A rs879718216 0.00003
NM_004727.3(SLC24A1):c.980C>T (p.Thr327Ile) rs746176031 0.00003
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663 0.00003
NM_006204.4(PDE6C):c.1120-6T>C rs202031903 0.00003
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His) rs779174659 0.00003
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) rs1460255181 0.00003
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=) rs200939953 0.00003
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala) rs758391651 0.00003
NM_019098.5(CNGB3):c.*1476T>A rs914165933 0.00003
NM_019098.5(CNGB3):c.129G>C (p.Gln43His) rs773587353 0.00003
NM_019098.5(CNGB3):c.1738G>A (p.Val580Ile) rs1256886489 0.00003
NM_019098.5(CNGB3):c.1829C>T (p.Ala610Val) rs201093395 0.00003
NM_019098.5(CNGB3):c.1834G>T (p.Gly612Trp) rs201675902 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_019098.5(CNGB3):c.489A>T (p.Gln163His) rs752150266 0.00003
NM_144499.3(GNAT1):c.*1379G>A rs886058689 0.00003
NM_144499.3(GNAT1):c.*1991G>A rs886058690 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_145200.5(CABP4):c.*1939A>G rs886048574 0.00003
NM_145200.5(CABP4):c.*2089T>C rs886048576 0.00003
NM_145200.5(CABP4):c.*2187G>C rs886048579 0.00003
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp) rs538101562 0.00003
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.258C>T (p.Leu86=) rs886059520 0.00002
NM_000283.4(PDE6B):c.297G>A (p.Gln99=) rs768652560 0.00002
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.316C>T (p.Leu106=) rs752429712 0.00002
NM_000283.4(PDE6B):c.469-5G>A rs530695084 0.00002
NM_000326.5(RLBP1):c.362G>A (p.Arg121Gln) rs139108078 0.00002
NM_000539.3(RHO):c.205C>T (p.Arg69Cys) rs761101263 0.00002
NM_001004334.4(GPR179):c.2150G>A (p.Arg717His) rs757722345 0.00002
NM_001004334.4(GPR179):c.2581G>A (p.Glu861Lys) rs756212907 0.00002
NM_001004334.4(GPR179):c.274C>A (p.Pro92Thr) rs1331610447 0.00002
NM_001004334.4(GPR179):c.3442G>A (p.Asp1148Asn) rs202183326 0.00002
NM_001004334.4(GPR179):c.4180C>G (p.Pro1394Ala) rs371158139 0.00002
NM_001004334.4(GPR179):c.4555G>A (p.Glu1519Lys) rs201569873 0.00002
NM_001004334.4(GPR179):c.5627G>C (p.Trp1876Ser) rs1290248528 0.00002
NM_001004334.4(GPR179):c.663G>T (p.Val221=) rs547308706 0.00002
NM_001048181.3(OPN1MW2):c.292G>A (p.Ala98Thr) rs782410634 0.00002
NM_001252024.2(TRPM1):c.1764G>C (p.Arg588Ser) rs779709494 0.00002
NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=) rs761531039 0.00002
NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys) rs561717036 0.00002
NM_001252024.2(TRPM1):c.942G>A (p.Ala314=) rs768420045 0.00002
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001298.3(CNGA3):c.*470C>T rs1273341168 0.00002
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu) rs199631623 0.00002
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) rs754414120 0.00002
NM_001378477.3(NYX):c.*744C>T rs780639009 0.00002
NM_004727.3(SLC24A1):c.*295G>A rs886051353 0.00002
NM_004727.3(SLC24A1):c.1287C>T (p.Pro429=) rs769956786 0.00002
NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=) rs372137068 0.00002
NM_004727.3(SLC24A1):c.2533G>A (p.Glu845Lys) rs532808985 0.00002
NM_004727.3(SLC24A1):c.3051-9A>G rs774208027 0.00002
NM_004727.3(SLC24A1):c.3179C>T (p.Ala1060Val) rs760183851 0.00002
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) rs777275171 0.00002
NM_006204.4(PDE6C):c.558G>A (p.Val186=) rs200979646 0.00002
NM_019098.5(CNGB3):c.*183A>C rs1199541859 0.00002
NM_019098.5(CNGB3):c.1126A>G (p.Asn376Asp) rs754937899 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_019098.5(CNGB3):c.221C>T (p.Ser74Phe) rs762689312 0.00002
NM_019098.5(CNGB3):c.2267G>A (p.Cys756Tyr) rs758659088 0.00002
NM_019098.5(CNGB3):c.475G>A (p.Glu159Lys) rs777404947 0.00002
NM_019098.5(CNGB3):c.995C>T (p.Thr332Ile) rs1027900338 0.00002
NM_144499.3(GNAT1):c.165C>T (p.Asp55=) rs776566245 0.00002
NM_145200.5(CABP4):c.*1063G>A rs191030743 0.00002
NM_145200.5(CABP4):c.*2098C>T rs886048577 0.00002
NM_145200.5(CABP4):c.*26C>T rs747352890 0.00002
NM_145200.5(CABP4):c.*2958T>C rs936395339 0.00002
NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) rs748865845 0.00002
NM_198506.5(LRIT3):c.332G>A (p.Arg111His) rs867751556 0.00002
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val) rs753430531 0.00002
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000283.3(PDE6B):c.*692G>A rs1444528398 0.00001
NM_000283.4(PDE6B):c.*187G>A rs1014159767 0.00001
NM_000283.4(PDE6B):c.*215A>G rs1040628827 0.00001
NM_000283.4(PDE6B):c.*279G>A rs886059548 0.00001
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys) rs376908835 0.00001
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys) rs139369984 0.00001
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=) rs886059545 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr) rs886059543 0.00001
NM_000539.3(RHO):c.*1144C>T rs886057977 0.00001
NM_000539.3(RHO):c.48G>A (p.Ala16=) rs766112074 0.00001
NM_000539.3(RHO):c.732G>A (p.Gln244=) rs148222991 0.00001
NM_000539.3(RHO):c.754C>T (p.Arg252Cys) rs752805805 0.00001
NM_000539.3(RHO):c.87C>T (p.Tyr29=) rs149084537 0.00001
NM_000539.3(RHO):c.962T>A (p.Ile321Asn) rs1316267671 0.00001
NM_000541.5(SAG):c.208C>T (p.Arg70Cys) rs777934036 0.00001
NM_001004334.4(GPR179):c.*359C>G rs143494935 0.00001
NM_001004334.4(GPR179):c.1070T>C (p.Leu357Pro) rs747110718 0.00001
NM_001004334.4(GPR179):c.1417C>T (p.Leu473=) rs762389933 0.00001
NM_001004334.4(GPR179):c.1785-3C>T rs1394125999 0.00001
NM_001004334.4(GPR179):c.180C>T (p.Leu60=) rs770286670 0.00001
NM_001004334.4(GPR179):c.1947C>T (p.Asp649=) rs372049950 0.00001
NM_001004334.4(GPR179):c.2149C>T (p.Arg717Cys) rs767911479 0.00001
NM_001004334.4(GPR179):c.272T>C (p.Leu91Pro) rs867417666 0.00001
NM_001004334.4(GPR179):c.296C>T (p.Ala99Val) rs201405656 0.00001
NM_001004334.4(GPR179):c.3110T>C (p.Val1037Ala) rs2037343188 0.00001
NM_001004334.4(GPR179):c.3349G>A (p.Gly1117Arg) rs771334464 0.00001
NM_001004334.4(GPR179):c.3357G>A (p.Ala1119=) rs547577586 0.00001
NM_001004334.4(GPR179):c.3447C>T (p.Asp1149=) rs1262445850 0.00001
NM_001004334.4(GPR179):c.3466C>G (p.Gln1156Glu) rs1184314233 0.00001
NM_001004334.4(GPR179):c.4071G>A (p.Lys1357=) rs1168693630 0.00001
NM_001004334.4(GPR179):c.4810G>T (p.Glu1604Ter) rs1464221989 0.00001
NM_001004334.4(GPR179):c.489C>T (p.Ala163=) rs749471277 0.00001
NM_001004334.4(GPR179):c.4996C>T (p.Gln1666Ter) rs1460626520 0.00001
NM_001004334.4(GPR179):c.5639A>G (p.Asp1880Gly) rs745835590 0.00001
NM_001004334.4(GPR179):c.6457G>A (p.Gly2153Arg) rs757565461 0.00001
NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=) rs781391422 0.00001
NM_001004334.4(GPR179):c.6965C>T (p.Thr2322Ile) rs759484427 0.00001
NM_001004334.4(GPR179):c.858A>G (p.Pro286=) rs758285150 0.00001
NM_001004334.4(GPR179):c.952C>T (p.Arg318Cys) rs773004800 0.00001
NM_001004334.4(GPR179):c.98G>A (p.Arg33His) rs886052900 0.00001
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_001252024.2(TRPM1):c.*350C>G rs934884046 0.00001
NM_001252024.2(TRPM1):c.1126G>A (p.Asp376Asn) rs765946115 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.1333A>C (p.Thr445Pro) rs886051031 0.00001
NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=) rs755094572 0.00001
NM_001252024.2(TRPM1):c.1623+5G>A rs765895314 0.00001
NM_001252024.2(TRPM1):c.1867G>A (p.Asp623Asn) rs769362413 0.00001
NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser) rs754980973 0.00001
NM_001252024.2(TRPM1):c.2087+6T>C rs760758606 0.00001
NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=) rs756489745 0.00001
NM_001252024.2(TRPM1):c.2269G>A (p.Asp757Asn) rs369155075 0.00001
NM_001252024.2(TRPM1):c.2308G>A (p.Gly770Ser) rs746594891 0.00001
NM_001252024.2(TRPM1):c.2317-1G>C rs756690940 0.00001
NM_001252024.2(TRPM1):c.2440-2A>G rs762634272 0.00001
NM_001252024.2(TRPM1):c.2834A>G (p.Tyr945Cys) rs756380069 0.00001
NM_001252024.2(TRPM1):c.3007G>A (p.Gly1003Arg) rs769138762 0.00001
NM_001252024.2(TRPM1):c.3148+1G>A rs779821510 0.00001
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile) rs375136665 0.00001
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg) rs776483887 0.00001
NM_001252024.2(TRPM1):c.378T>C (p.His126=) rs769783908 0.00001
NM_001252024.2(TRPM1):c.386T>C (p.Leu129Pro) rs2034428006 0.00001
NM_001252024.2(TRPM1):c.4838A>T (p.Lys1613Met) rs753089696 0.00001
NM_001252024.2(TRPM1):c.494-8G>A rs757371423 0.00001
NM_001252024.2(TRPM1):c.75C>T (p.Asp25=) rs777321357 0.00001
NM_001298.3(CNGA3):c.*316A>G rs1260317371 0.00001
NM_001298.3(CNGA3):c.*469A>G rs536138883 0.00001
NM_001298.3(CNGA3):c.*894C>T rs540492671 0.00001
NM_001298.3(CNGA3):c.1347G>A (p.Lys449=) rs778251470 0.00001
NM_001298.3(CNGA3):c.154A>G (p.Met52Val) rs368962370 0.00001
NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg) rs1558821005 0.00001
NM_001298.3(CNGA3):c.1866C>T (p.Asp622=) rs886056490 0.00001
NM_001298.3(CNGA3):c.1A>T (p.Met1Leu) rs1324338876 0.00001
NM_001298.3(CNGA3):c.2050G>A (p.Gly684Arg) rs754086920 0.00001
NM_001298.3(CNGA3):c.225C>T (p.Arg75=) rs200404774 0.00001
NM_001298.3(CNGA3):c.238C>T (p.Leu80=) rs575326068 0.00001
NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys) rs994092587 0.00001
NM_001298.3(CNGA3):c.449+13A>G rs1692582037 0.00001
NM_001298.3(CNGA3):c.478G>A (p.Val160Met) rs373542579 0.00001
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys) rs757650055 0.00001
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364 0.00001
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr) rs753014058 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.672T>C (p.Cys224=) rs201230566 0.00001
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) rs140788789 0.00001
NM_004727.3(SLC24A1):c.*1363G>A rs886051356 0.00001
NM_004727.3(SLC24A1):c.*1616A>T rs1433961660 0.00001
NM_004727.3(SLC24A1):c.*203G>A rs1022815934 0.00001
NM_004727.3(SLC24A1):c.*2040T>C rs927721327 0.00001
NM_004727.3(SLC24A1):c.-127+10G>A rs562775135 0.00001
NM_004727.3(SLC24A1):c.-49T>C rs777522531 0.00001
NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln) rs886051348 0.00001
NM_004727.3(SLC24A1):c.1441C>G (p.Leu481Val) rs755476531 0.00001
NM_004727.3(SLC24A1):c.1892C>T (p.Pro631Leu) rs771446643 0.00001
NM_004727.3(SLC24A1):c.3206T>A (p.Ile1069Asn) rs771727416 0.00001
NM_006204.4(PDE6C):c.*87C>T rs540915530 0.00001
NM_006204.4(PDE6C):c.1072-8C>T rs781649493 0.00001
NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser) rs762249684 0.00001
NM_006204.4(PDE6C):c.1482+9T>C rs201702907 0.00001
NM_006204.4(PDE6C):c.1557C>T (p.His519=) rs762809900 0.00001
NM_006204.4(PDE6C):c.2037-13G>C rs765202218 0.00001
NM_006204.4(PDE6C):c.2304A>G (p.Lys768=) rs768365686 0.00001
NM_006204.4(PDE6C):c.306G>A (p.Arg102=) rs545034158 0.00001
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser) rs201231586 0.00001
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) rs760690854 0.00001
NM_006205.3(PDE6H):c.*47G>C rs886049108 0.00001
NM_006205.3(PDE6H):c.-42C>T rs955172114 0.00001
NM_007348.4(ATF6):c.677C>A (p.Ala226Glu) rs1386210791 0.00001
NM_019098.4(CNGB3):c.*1701C>T rs886063154 0.00001
NM_019098.5(CNGB3):c.*1218C>T rs1054383456 0.00001
NM_019098.5(CNGB3):c.*1368T>C rs886063155 0.00001
NM_019098.5(CNGB3):c.*1431G>A rs1337904740 0.00001
NM_019098.5(CNGB3):c.1052A>G (p.Tyr351Cys) rs777359145 0.00001
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160 0.00001
NM_019098.5(CNGB3):c.1422T>C (p.Leu474=) rs908750016 0.00001
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269 0.00001
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=) rs751667290 0.00001
NM_019098.5(CNGB3):c.1607T>C (p.Met536Thr) rs367652647 0.00001
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn) rs1410218983 0.00001
NM_019098.5(CNGB3):c.1775A>G (p.Glu592Gly) rs566844518 0.00001
NM_019098.5(CNGB3):c.1778T>G (p.Ile593Ser) rs780344162 0.00001
NM_019098.5(CNGB3):c.1856T>C (p.Leu619Pro) rs1358482909 0.00001
NM_019098.5(CNGB3):c.2050G>A (p.Gly684Arg) rs1488638223 0.00001
NM_019098.5(CNGB3):c.2103+4A>G rs762261801 0.00001
NM_019098.5(CNGB3):c.2180A>G (p.Gln727Arg) rs758606162 0.00001
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe) rs750535143 0.00001
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn) rs148834016 0.00001
NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly) rs1165080500 0.00001
NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn) rs769966310 0.00001
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr) rs1823848358 0.00001
NM_019098.5(CNGB3):c.468C>T (p.Ser156=) rs1442224621 0.00001
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro) rs752920111 0.00001
NM_019098.5(CNGB3):c.738C>T (p.Thr246=) rs781628736 0.00001
NM_019098.5(CNGB3):c.768G>A (p.Ala256=) rs767128005 0.00001
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr) rs886063162 0.00001
NM_019098.5(CNGB3):c.818C>T (p.Pro273Leu) rs1466687341 0.00001
NM_019098.5(CNGB3):c.82G>A (p.Glu28Lys) rs752910520 0.00001
NM_019098.5(CNGB3):c.831T>G (p.Phe277Leu) rs1420784567 0.00001
NM_019098.5(CNGB3):c.853G>A (p.Val285Met) rs1042970165 0.00001
NM_144499.3(GNAT1):c.*1101C>T rs886058687 0.00001
NM_144499.3(GNAT1):c.*2074T>C rs886058691 0.00001
NM_144499.3(GNAT1):c.*2129G>A rs886058692 0.00001
NM_144499.3(GNAT1):c.*678C>T rs1004131014 0.00001
NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro) rs367790137 0.00001
NM_145200.5(CABP4):c.*1402G>A rs949888937 0.00001
NM_145200.5(CABP4):c.*1662G>A rs1257789507 0.00001
NM_145200.5(CABP4):c.*1827C>T rs886048566 0.00001
NM_145200.5(CABP4):c.*1957A>G rs1181533164 0.00001
NM_145200.5(CABP4):c.*2438G>A rs886048582 0.00001
NM_145200.5(CABP4):c.*2583C>T rs886048583 0.00001
NM_145200.5(CABP4):c.*295G>A rs181113902 0.00001
NM_145200.5(CABP4):c.*669T>C rs886048564 0.00001
NM_145200.5(CABP4):c.228T>G (p.Thr76=) rs1050306159 0.00001
NM_145200.5(CABP4):c.367-8C>T rs200871690 0.00001
NM_145200.5(CABP4):c.397G>A (p.Glu133Lys) rs763497383 0.00001
NM_145200.5(CABP4):c.432C>T (p.Asp144=) rs766247910 0.00001
NM_145200.5(CABP4):c.541+14C>T rs886048561 0.00001
NM_198506.5(LRIT3):c.*1516C>A rs886058987 0.00001
NM_198506.5(LRIT3):c.*82C>T rs942045086 0.00001
NM_198506.5(LRIT3):c.1018G>A (p.Val340Met) rs746795751 0.00001
NM_198506.5(LRIT3):c.1157T>G (p.Leu386Arg) rs151283521 0.00001
NM_198506.5(LRIT3):c.1314C>A (p.Asn438Lys) rs886058986 0.00001
NM_198506.5(LRIT3):c.1677G>A (p.Val559=) rs762638752 0.00001
NM_198506.5(LRIT3):c.1913G>C (p.Ser638Thr) rs550500577 0.00001
NM_198506.5(LRIT3):c.1966C>G (p.Leu656Val) rs1195746556 0.00001
NM_198506.5(LRIT3):c.660C>T (p.Asp220=) rs761469951 0.00001
NM_198506.5(LRIT3):c.667A>G (p.Ile223Val) rs145327749 0.00001
NM_198506.5(LRIT3):c.966C>T (p.Asp322=) rs141753583 0.00001
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000283.4(PDE6B):c.*115T>A rs1194338211
NM_000283.4(PDE6B):c.*390T>C rs886059549
NM_000283.4(PDE6B):c.*561C>T rs886059551
NM_000283.4(PDE6B):c.*592A>G rs886059552
NM_000283.4(PDE6B):c.*626T>C rs886059553
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=) rs754298712
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly) rs1208473466
NM_000283.4(PDE6B):c.117G>T (p.Gly39=) rs140538420
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=) rs1736347354
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln) rs144664551
NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser) rs754298498
NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser) rs752738349
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=) rs1737323722
NM_000283.4(PDE6B):c.2073C>T (p.Asp691=) rs886059544
NM_000283.4(PDE6B):c.2129+9G>C rs753943492
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu) rs886059546
NM_000283.4(PDE6B):c.2269-7C>T rs1268705787
NM_000283.4(PDE6B):c.483C>T (p.Ser161=) rs886059526
NM_000283.4(PDE6B):c.711+12C>T rs886059527
NM_000283.4(PDE6B):c.853-9T>C rs886059542
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala) rs1736021671
NM_000539.3(RHO):c.*1454G>A rs2084812090
NM_000539.3(RHO):c.*224C>T rs886057970
NM_000539.3(RHO):c.*26C>T rs773347364
NM_000539.3(RHO):c.*276C>T rs759322778
NM_000539.3(RHO):c.*406G>C rs2084804479
NM_000539.3(RHO):c.*40C>T rs886057968
NM_000539.3(RHO):c.*542G>A rs369408405
NM_000539.3(RHO):c.*573C>T rs2084806235
NM_000539.3(RHO):c.*633G>A rs886057972
NM_000539.3(RHO):c.*645G>C rs886057973
NM_000539.3(RHO):c.*670A>C rs2084806843
NM_000539.3(RHO):c.*679A>G rs1359424642
NM_000539.3(RHO):c.*815G>T rs2084807511
NM_000539.3(RHO):c.*838A>T rs886057974
NM_000539.3(RHO):c.*887G>C rs886057975
NM_000539.3(RHO):c.*970C>T rs886057976
NM_000539.3(RHO):c.-24G>T rs771188148
NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)
NM_000539.3(RHO):c.586C>A (p.Pro196Thr) rs765931092
NM_000539.3(RHO):c.614T>G (p.Ile205Ser) rs886057967
NM_000539.3(RHO):c.696+12G>A rs55915536
NM_000539.3(RHO):c.704C>A (p.Ala235Asp) rs1390478420
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658
NM_000539.3(RHO):c.847T>C (p.Phe283Leu) rs2084790979
NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro) rs777168556
NM_000843.4(GRM6):c.527C>T (p.Ser176Phe) rs1581898677
NM_000843.4(GRM6):c.824G>A (p.Gly275Asp)
NM_001004334.4(GPR179):c.*17G>C rs770311999
NM_001004334.4(GPR179):c.*388A>C rs1018088318
NM_001004334.4(GPR179):c.*516T>C rs886052893
NM_001004334.4(GPR179):c.*640G>T rs2037280359
NM_001004334.4(GPR179):c.1294C>A (p.Pro432Thr) rs772895584
NM_001004334.4(GPR179):c.134G>T (p.Gly45Val) rs886052899
NM_001004334.4(GPR179):c.1388T>A (p.Ile463Asn) rs886052897
NM_001004334.4(GPR179):c.1477C>A (p.His493Asn) rs114716738
NM_001004334.4(GPR179):c.1784+9G>A rs774545222
NM_001004334.4(GPR179):c.1916G>A (p.Arg639Gln) rs62073369
NM_001004334.4(GPR179):c.2002T>C (p.Trp668Arg) rs2037374851
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln) rs199619898
NM_001004334.4(GPR179):c.2419G>A (p.Val807Met) rs2037354573
NM_001004334.4(GPR179):c.2556C>T (p.Leu852=) rs777488974
NM_001004334.4(GPR179):c.278dup (p.Ser94fs) rs794726685
NM_001004334.4(GPR179):c.3092G>A (p.Arg1031Lys)
NM_001004334.4(GPR179):c.3125C>G (p.Ala1042Gly) rs886052896
NM_001004334.4(GPR179):c.3364_3365del (p.Ser1122fs) rs1205982736
NM_001004334.4(GPR179):c.3451G>A (p.Glu1151Lys) rs1170813264
NM_001004334.4(GPR179):c.3460C>T (p.Gln1154Ter) rs757044884
NM_001004334.4(GPR179):c.3474C>A (p.Asn1158Lys) rs755044433
NM_001004334.4(GPR179):c.3518G>C (p.Ser1173Thr) rs565610587
NM_001004334.4(GPR179):c.3699G>T (p.Leu1233=) rs35803744
NM_001004334.4(GPR179):c.3846C>T (p.Asp1282=) rs2037332515
NM_001004334.4(GPR179):c.3876G>A (p.Glu1292=) rs1699475935
NM_001004334.4(GPR179):c.3919C>T (p.Arg1307Trp) rs765046358
NM_001004334.4(GPR179):c.4073T>G (p.Val1358Gly) rs752363198
NM_001004334.4(GPR179):c.4081C>G (p.Pro1361Ala) rs1471292987
NM_001004334.4(GPR179):c.4888G>A (p.Glu1630Lys) rs149998444
NM_001004334.4(GPR179):c.5119T>C (p.Trp1707Arg) rs769294419
NM_001004334.4(GPR179):c.5386T>G (p.Cys1796Gly) rs369190209
NM_001004334.4(GPR179):c.5769T>C (p.Gly1923=) rs2037304044
NM_001004334.4(GPR179):c.6012T>A (p.Asp2004Glu) rs886052895
NM_001004334.4(GPR179):c.6169G>A (p.Val2057Met) rs762962801
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001252024.2(TRPM1):c.*240G>T rs138295515
NM_001252024.2(TRPM1):c.*250T>C rs2031763037
NM_001252024.2(TRPM1):c.*651C>T rs184781100
NM_001252024.2(TRPM1):c.*65A>G rs2031769261
NM_001252024.2(TRPM1):c.108C>A (p.Asn36Lys) rs886051034
NM_001252024.2(TRPM1):c.1265C>T (p.Pro422Leu) rs2033921068
NM_001252024.2(TRPM1):c.1525A>G (p.Met509Val) rs2033876591
NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=) rs756489745
NM_001252024.2(TRPM1):c.2440-13C>A rs751355642
NM_001252024.2(TRPM1):c.254del (p.Gly85fs) rs1567032774
NM_001252024.2(TRPM1):c.2572A>G (p.Ile858Val) rs886051030
NM_001252024.2(TRPM1):c.2653A>C (p.Ile885Leu) rs201650867
NM_001252024.2(TRPM1):c.2843A>G (p.Tyr948Cys) rs1356433853
NM_001252024.2(TRPM1):c.2860T>G (p.Cys954Gly)
NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp) rs184390324
NM_001252024.2(TRPM1):c.330G>T (p.Met110Ile) rs886051033
NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs) rs1566996007
NM_001252024.2(TRPM1):c.3666dup (p.Glu1223Ter) rs1566982738
NM_001252024.2(TRPM1):c.4286T>C (p.Ile1429Thr) rs886051029
NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser) rs2031784574
NM_001252024.2(TRPM1):c.493+13C>T rs372144508
NM_001252024.2(TRPM1):c.846G>C (p.Val282=) rs773186865
NM_001252024.2(TRPM1):c.970A>G (p.Ile324Val) rs886051032
NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del) rs2147917984
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=) rs782527288
NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe) rs1344295491
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) rs2065752304
NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp)
NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del) rs2065661046
NM_001298.2(CNGA3):c.-381A>G rs1691615064
NM_001298.3(CNGA3):c.*1209del rs886056494
NM_001298.3(CNGA3):c.*269A>G rs1692950011
NM_001298.3(CNGA3):c.*418T>C rs886056491
NM_001298.3(CNGA3):c.*751T>C rs1692960843
NM_001298.3(CNGA3):c.*765G>A rs1692961283
NM_001298.3(CNGA3):c.*904C>T rs867630128
NM_001298.3(CNGA3):c.-43G>A rs886056488
NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=) rs1692911635
NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu) rs1162745859
NM_001298.3(CNGA3):c.1486C>T (p.Leu496=) rs747895951
NM_001298.3(CNGA3):c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu)
NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg)
NM_001298.3(CNGA3):c.1845G>T (p.Glu615Asp) rs886056489
NM_001298.3(CNGA3):c.1889T>C (p.Val630Ala) rs2104250774
NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr)
NM_001298.3(CNGA3):c.450-15T>G rs2104229048
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001298.3(CNGA3):c.553C>G (p.Leu185Val) rs779715055
NM_001298.3(CNGA3):c.566G>A (p.Arg189Lys) rs2104229996
NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro) rs1692797695
NM_001298.3(CNGA3):c.66C>T (p.Asp22=) rs2104175460
NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala) rs2104236067
NM_001298.3(CNGA3):c.715C>T (p.Leu239=) rs768456172
NM_001298.3(CNGA3):c.743A>G (p.Gln248Arg) rs2104245407
NM_001298.3(CNGA3):c.772C>G (p.Pro258Ala) rs1477725731
NM_001298.3(CNGA3):c.777C>A (p.Thr259=) rs138921037
NM_001298.3(CNGA3):c.796G>A (p.Val266Met) rs536335712
NM_001377295.2(GNAT2):c.*102C>A rs572222112
NM_001377295.2(GNAT2):c.-53-35C>G rs886045029
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln) rs140250745
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys) rs1557918635
NM_001377295.2(GNAT2):c.620A>T (p.Glu207Val) rs1557918619
NM_001377295.2(GNAT2):c.623G>C (p.Arg208Thr) rs995152260
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_001378477.3(NYX):c.*157C>G rs1057515884
NM_001378477.3(NYX):c.*16del rs762960396
NM_001378477.3(NYX):c.*72T>C rs1057515883
NM_001378477.3(NYX):c.*734_*735dup rs201620180
NM_001378477.3(NYX):c.148C>T (p.Arg50Trp) rs1287556040
NM_001378477.3(NYX):c.22+5G>A
NM_001378477.3(NYX):c.371_372dup (p.Thr125fs) rs2147025534
NM_001378477.3(NYX):c.467T>C (p.Leu156Pro) rs1245924306
NM_001378477.3(NYX):c.645C>G (p.Ala215=) rs924692905
NM_001378477.3(NYX):c.722C>T (p.Pro241Leu) rs763017414
NM_004727.3(SLC24A1):c.*1016G>A rs1319803654
NM_004727.3(SLC24A1):c.*1099A>T rs886051354
NM_004727.3(SLC24A1):c.*1346C>A rs777291212
NM_004727.3(SLC24A1):c.*1883A>G rs2075670262
NM_004727.3(SLC24A1):c.*1959A>G rs1596361110
NM_004727.3(SLC24A1):c.*2146T>G rs77255459
NM_004727.3(SLC24A1):c.*349C>T rs184758393
NM_004727.3(SLC24A1):c.*858C>T rs2075630737
NM_004727.3(SLC24A1):c.*986G>T rs2075635357
NM_004727.3(SLC24A1):c.1271C>A (p.Pro424His) rs919442711
NM_004727.3(SLC24A1):c.1886G>A (p.Ser629Asn) rs2074500484
NM_004727.3(SLC24A1):c.1976C>A (p.Ser659Ter) rs367858805
NM_004727.3(SLC24A1):c.2053+6C>T rs886051350
NM_004727.3(SLC24A1):c.2106C>T (p.Ala702=) rs2075238543
NM_004727.3(SLC24A1):c.222G>T (p.Met74Ile) rs370527618
NM_004727.3(SLC24A1):c.2516G>T (p.Gly839Val) rs2075464806
NM_004727.3(SLC24A1):c.2574T>G (p.Asp858Glu) rs2075467314
NM_004727.3(SLC24A1):c.2661A>G (p.Glu887=) rs886051352
NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile) rs760348512
NM_004727.3(SLC24A1):c.2T>C (p.Met1Thr) rs886051347
NM_004727.3(SLC24A1):c.3050+3G>C rs758702980
NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=) rs139757342
NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs) rs886051349
NM_004727.3(SLC24A1):c.639G>T (p.Ala213=) rs781442429
NM_006204.4(PDE6C):c.*64A>C rs1781280550
NM_006204.4(PDE6C):c.-7C>A rs2058397201
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln) rs777483878
NM_006204.4(PDE6C):c.1308T>G (p.Thr436=) rs2058524276
NM_006204.4(PDE6C):c.1413+3A>T
NM_006204.4(PDE6C):c.1629G>T (p.Glu543Asp) rs2058552494
NM_006204.4(PDE6C):c.1630-4T>C rs368331638
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) rs143394832
NM_006204.4(PDE6C):c.1711G>C (p.Gly571Arg)
NM_006204.4(PDE6C):c.2018A>G (p.Asp673Gly)
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2208+13_2208+17del rs886047483
NM_006204.4(PDE6C):c.2242C>A (p.Gln748Lys)
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu) rs1554892155
NM_006204.4(PDE6C):c.2269C>A (p.Gln757Lys) rs2058668455
NM_006204.4(PDE6C):c.2288T>C (p.Met763Thr) rs1554892197
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly) rs1554892199
NM_006204.4(PDE6C):c.2367G>A (p.Lys789=) rs2058671471
NM_006204.4(PDE6C):c.2386A>G (p.Lys796Glu) rs768171384
NM_006204.4(PDE6C):c.2424C>G (p.Asn808Lys) rs912743767
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) rs779769374
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys) rs200506932
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) rs886047481
NM_006204.4(PDE6C):c.669C>T (p.Ile223=) rs2058442754
NM_006204.4(PDE6C):c.939+9A>G rs886047482
NM_006205.3(PDE6H):c.*134G>A rs886049110
NM_006205.3(PDE6H):c.*77C>G rs886049109
NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser) rs199740819
NM_006205.3(PDE6H):c.59G>A (p.Arg20His) rs775561506
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs) rs1571184566
NM_019098.4(CNGB3):c.*1654C>T rs796676165
NM_019098.4(CNGB3):c.*1705A>C rs982329960
NM_019098.4(CNGB3):c.*1733T>C rs970889903
NM_019098.5(CNGB3):c.*1093C>T rs886063156
NM_019098.5(CNGB3):c.*1143T>C rs1821625317
NM_019098.5(CNGB3):c.*272G>T rs1821641223
NM_019098.5(CNGB3):c.*291T>A rs1821640855
NM_019098.5(CNGB3):c.*379T>G rs188787381
NM_019098.5(CNGB3):c.*435G>A rs964834349
NM_019098.5(CNGB3):c.*800C>G rs1028298142
NM_019098.5(CNGB3):c.-1G>A rs1825379377
NM_019098.5(CNGB3):c.1013A>G (p.Asn338Ser) rs548817727
NM_019098.5(CNGB3):c.1056-3C>G rs1554611763
NM_019098.5(CNGB3):c.1178+9T>C rs549858104
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.5(CNGB3):c.1193A>G (p.Tyr398Cys) rs564759960
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) rs1178528306
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=) rs768959472
NM_019098.5(CNGB3):c.1378G>A (p.Asp460Asn) rs148572872
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=) rs1822365271
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter) rs1554604769
NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu) rs748785588
NM_019098.5(CNGB3):c.212-6del rs745969238
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[3] (p.720QKENEDK[3]) rs746549330
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) rs758914061
NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser) rs375288585
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr) rs1821645749
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.353C>T (p.Pro118Leu) rs755429797
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu) rs758681401
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu) rs1456633980
NM_019098.5(CNGB3):c.494-8dup rs763273522
NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr) rs766852205
NM_019098.5(CNGB3):c.715C>A (p.Arg239Ser) rs200019416
NM_019098.5(CNGB3):c.74G>A (p.Arg25His) rs141098074
NM_019098.5(CNGB3):c.803T>C (p.Met268Thr) rs1440942177
NM_019098.5(CNGB3):c.910G>T (p.Val304Phe) rs1454679758
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg) rs1823317372
NM_020061.6(OPN1LW):c.843G>T (p.Trp281Cys)
NM_144499.3(GNAT1):c.*1205C>T rs886058688
NM_144499.3(GNAT1):c.*128T>A rs886058686
NM_144499.3(GNAT1):c.*1789A>G rs187475557
NM_144499.3(GNAT1):c.*2128C>A rs879841527
NM_144499.3(GNAT1):c.*806G>A rs574271694
NM_144499.3(GNAT1):c.*834T>A rs760716503
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.149+8C>A rs1699440055
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080
NM_144499.3(GNAT1):c.450-11G>T rs2109139018
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) rs1559746613
NM_144499.3(GNAT1):c.830C>T (p.Ala277Val) rs886058685
NM_145200.5(CABP4):c.*1285G>A rs373857371
NM_145200.5(CABP4):c.*1758G>A rs545370587
NM_145200.5(CABP4):c.*1933C>A rs886048573
NM_145200.5(CABP4):c.*2061C>T rs1382811119
NM_145200.5(CABP4):c.*2065T>G rs886048575
NM_145200.5(CABP4):c.*2331A>G rs886048581
NM_145200.5(CABP4):c.*2357A>G rs1461232183
NM_145200.5(CABP4):c.*262C>G rs886048562
NM_145200.5(CABP4):c.*2886T>A rs1865015075
NM_145200.5(CABP4):c.*2896T>C rs1865015731
NM_145200.5(CABP4):c.*2905G>A rs1865015969
NM_145200.5(CABP4):c.*324C>A rs886048563
NM_145200.5(CABP4):c.*408C>T rs376738871
NM_145200.5(CABP4):c.*62A>T rs899658098
NM_145200.5(CABP4):c.194A>G (p.Glu65Gly) rs886048559
NM_145200.5(CABP4):c.246C>A (p.Gly82=) rs147329388
NM_145200.5(CABP4):c.281G>A (p.Arg94His) rs143040005
NM_145200.5(CABP4):c.315C>T (p.His105=) rs756570102
NM_145200.5(CABP4):c.415G>A (p.Glu139Lys) rs769103245
NM_145200.5(CABP4):c.524A>G (p.Gln175Arg) rs886048560
NM_145200.5(CABP4):c.619_633dup (p.Gly207_Leu211dup) rs2135182933
NM_145200.5(CABP4):c.773A>T (p.Asn258Ile) rs773516968
NM_145200.5(CABP4):c.799+7C>T rs370492431
NM_198506.5(LRIT3):c.*1070C>T rs1734844540
NM_198506.5(LRIT3):c.*1155G>A rs1214674799
NM_198506.5(LRIT3):c.*1182T>C rs1579384911
NM_198506.5(LRIT3):c.*258G>A rs1734822393
NM_198506.5(LRIT3):c.*959C>T rs954666885
NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu) rs778238467
NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly) rs140494004
NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs) rs1560588083
NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu) rs886058985
NM_198506.5(LRIT3):c.900A>G (p.Ile300Met) rs996641458
NM_198506.5(LRIT3):c.99T>C (p.Asn33=) rs1054476083

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.