ClinVar Miner

List of variants studied for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 426
Download table as spreadsheet
HGVS dbSNP
CNGB3, 1-BP INS, 492T
CNGB3, 8-BP DEL, NT819
GNAT2, 4-BP INS, 842TCAG
GNAT2, NT285, 7-BP DEL/6-BP INS
NC_000001.10:g.110150279_110152297dup
NC_000001.11:g.109606085C>T
NC_000008.11:g.86688947_86688948insMF045863.1g.1_36978
NC_000008.11:g.86711345_86711346insMF045864.2g.1_98770
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_001079878.2(CNGA3):c.*1050A>G rs886056493
NM_001079878.2(CNGA3):c.*1209del rs886056494
NM_001079878.2(CNGA3):c.*1240C>T rs886056495
NM_001079878.2(CNGA3):c.*166G>A rs746901363
NM_001079878.2(CNGA3):c.*178C>T rs113687827
NM_001079878.2(CNGA3):c.*283G>A rs140093444
NM_001079878.2(CNGA3):c.*418T>C rs886056491
NM_001079878.2(CNGA3):c.*469A>G rs536138883
NM_001079878.2(CNGA3):c.*516T>C rs886056492
NM_001079878.2(CNGA3):c.*574C>T rs13429817
NM_001079878.2(CNGA3):c.*60G>A rs546240673
NM_001079878.2(CNGA3):c.*838T>C rs13395005
NM_001079878.2(CNGA3):c.*904C>T rs867630128
NM_001079878.2(CNGA3):c.-37-1G>C rs1553447991
NM_001079878.2(CNGA3):c.-43G>A rs886056488
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.110C>T (p.Ser37Leu) rs141086649
NM_001079878.2(CNGA3):c.1163T>C (p.Met388Thr) rs1553450734
NM_001079878.2(CNGA3):c.1174C>T (p.Arg392Trp) rs137852608
NM_001079878.2(CNGA3):c.1225C>T (p.Arg409Cys) rs141386891
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_001079878.2(CNGA3):c.1256_1258delinsAG (p.Val419fs) rs1558820471
NM_001079878.2(CNGA3):c.1266G>A (p.Trp422Ter) rs1553450764
NM_001079878.2(CNGA3):c.1289A>G (p.Lys430Arg) rs190014426
NM_001079878.2(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001079878.2(CNGA3):c.1503G>A (p.Met501Ile) rs199655686
NM_001079878.2(CNGA3):c.1531G>A (p.Val511Met) rs104893619
NM_001079878.2(CNGA3):c.1564G>A (p.Val522Ile) rs116448158
NM_001079878.2(CNGA3):c.1572C>T (p.Ser524=) rs78583671
NM_001079878.2(CNGA3):c.1587C>A (p.Phe529Leu) rs104893617
NM_001079878.2(CNGA3):c.1615G>A (p.Gly539Arg) rs104893615
NM_001079878.2(CNGA3):c.1625C>T (p.Ser542Leu) rs370911601
NM_001079878.2(CNGA3):c.1692C>T (p.Asp564=) rs77311157
NM_001079878.2(CNGA3):c.1723G>A (p.Glu575Lys) rs774676415
NM_001079878.2(CNGA3):c.1791G>T (p.Glu597Asp) rs886056489
NM_001079878.2(CNGA3):c.1812C>T (p.Asp604=) rs886056490
NM_001079878.2(CNGA3):c.1895A>C (p.Glu632Ala) rs139368657
NM_001079878.2(CNGA3):c.1914G>A (p.Met638Ile) rs147293818
NM_001079878.2(CNGA3):c.1996G>A (p.Gly666Arg) rs754086920
NM_001079878.2(CNGA3):c.215+11A>G rs199755395
NM_001079878.2(CNGA3):c.225C>T (p.Arg75=) rs200404774
NM_001079878.2(CNGA3):c.238C>T (p.Leu80=) rs575326068
NM_001079878.2(CNGA3):c.395+3030G>A rs114951127
NM_001079878.2(CNGA3):c.434C>T (p.Pro145Leu) rs104893612
NM_001079878.2(CNGA3):c.499C>G (p.Leu167Val) rs779715055
NM_001079878.2(CNGA3):c.512+6C>T rs199558955
NM_001079878.2(CNGA3):c.613C>T (p.Arg205Trp) rs138958917
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.67C>T (p.Arg23Ter) rs777509481
NM_001079878.2(CNGA3):c.723C>A (p.Thr241=) rs138921037
NM_001079878.2(CNGA3):c.72T>C (p.Asp24=) rs6727412
NM_001079878.2(CNGA3):c.742G>A (p.Val248Met) rs536335712
NM_001079878.2(CNGA3):c.757C>G (p.Pro253Ala) rs149802213
NM_001079878.2(CNGA3):c.773A>G (p.Asn258Ser) rs199474697
NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys) rs104893620
NM_001079878.2(CNGA3):c.793C>T (p.Arg265Trp) rs104893613
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) rs104893614
NM_001079878.2(CNGA3):c.815G>A (p.Arg272His) rs199837807
NM_001079878.2(CNGA3):c.818C>G (p.Thr273Arg) rs104893616
NM_001079878.2(CNGA3):c.880_882ATC[2] (p.Ile296del)
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro) rs146195955
NM_001079878.2(CNGA3):c.929T>C (p.Ile310Thr) rs752170364
NM_001079878.2(CNGA3):c.931G>T (p.Gly311Cys) rs1558820134
NM_001079878.2(CNGA3):c.980A>G (p.His327Arg) rs780411290
NM_001298.2(CNGA3):c.*1351T>G rs28376087
NM_001298.2(CNGA3):c.-271G>A rs192111633
NM_001298.2(CNGA3):c.-286C>T rs13408372
NM_001298.2(CNGA3):c.-287C>T rs775933048
NM_001298.2(CNGA3):c.-326G>A rs886056487
NM_001298.2(CNGA3):c.-383A>G rs143449407
NM_001298.2(CNGA3):c.-388C>G rs748374868
NM_001298.2(CNGA3):c.-406C>T rs529394802
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
NM_001298.3(CNGA3):c.1294del (p.Asp432fs)
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys)
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr)
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro)
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser)
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)
NM_005272.4(GNAT2):c.-131G>A rs532113128
NM_005272.4(GNAT2):c.-32A>G rs2304355
NM_005272.4(GNAT2):c.-88C>G rs886045029
NM_005272.4(GNAT2):c.107T>G (p.Leu36Arg) rs1240543072
NM_005272.4(GNAT2):c.139A>G (p.Ser47Gly) rs146606352
NM_005272.4(GNAT2):c.147C>T (p.Ile49=) rs146945932
NM_005272.4(GNAT2):c.14C>T (p.Ala5Val) rs199503029
NM_005272.4(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_005272.4(GNAT2):c.257G>A (p.Arg86Gln) rs140250745
NM_005272.4(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_005272.4(GNAT2):c.303+365_461+974del
NM_005272.4(GNAT2):c.313C>T (p.Arg105Ter) rs1403825722
NM_005272.4(GNAT2):c.319C>A (p.Leu107Ile) rs3738766
NM_005272.4(GNAT2):c.369C>T (p.Leu123=) rs12046787
NM_005272.4(GNAT2):c.370G>A (p.Val124Met) rs41280330
NM_005272.4(GNAT2):c.427G>A (p.Ala143Thr) rs149421007
NM_005272.4(GNAT2):c.461+24G>A rs397515384
NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005272.4(GNAT2):c.503dup (p.Pro169_Ser170insTer) rs1557918911
NM_005272.4(GNAT2):c.546G>A (p.Thr182=) rs1799875
NM_005272.4(GNAT2):c.591-2A>C rs1557918638
NM_005272.4(GNAT2):c.593T>A (p.Met198Lys) rs1557918635
NM_005272.4(GNAT2):c.609G>T (p.Gly203=) rs551776784
NM_005272.4(GNAT2):c.620A>T (p.Glu207Val) rs1557918619
NM_005272.4(GNAT2):c.623G>C (p.Arg208Thr) rs995152260
NM_005272.4(GNAT2):c.672T>C (p.Cys224=) rs201230566
NM_005272.4(GNAT2):c.720+2T>C rs1557918544
NM_005272.4(GNAT2):c.724C>T (p.Arg242Cys) rs754414120
NM_005272.4(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_005272.4(GNAT2):c.808_810AAG[1] (p.Lys271del)
NM_005272.4(GNAT2):c.886T>C (p.Tyr296His) rs757147586
NM_005272.4(GNAT2):c.928C>T (p.Leu310Phe) rs200883344
NM_005272.4(GNAT2):c.933T>C (p.Asn311=) rs34723289
NM_005272.4(GNAT2):c.937C>T (p.Arg313Ter) rs748981899
NM_005272.4(GNAT2):c.943G>A (p.Asp315Asn) rs950519744
NM_005272.4(GNAT2):c.955del (p.Ile319fs) rs1557917535
NM_006204.4(PDE6C):c.*209T>C rs530054025
NM_006204.4(PDE6C):c.*235A>T rs543722110
NM_006204.4(PDE6C):c.*247A>C rs563701427
NM_006204.4(PDE6C):c.*26A>G rs112520932
NM_006204.4(PDE6C):c.*87C>T rs540915530
NM_006204.4(PDE6C):c.-21C>T rs374900090
NM_006204.4(PDE6C):c.1004C>A (p.Pro335Gln) rs777483878
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663
NM_006204.4(PDE6C):c.1072-8C>T rs781649493
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550
NM_006204.4(PDE6C):c.1104A>G (p.Glu368=) rs145836229
NM_006204.4(PDE6C):c.124G>A (p.Val42Met) rs774245507
NM_006204.4(PDE6C):c.1269+1G>A rs1554889905
NM_006204.4(PDE6C):c.1270-7A>G rs616522
NM_006204.4(PDE6C):c.1270-9C>T rs11187564
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228
NM_006204.4(PDE6C):c.1482+9T>C rs201702907
NM_006204.4(PDE6C):c.1505G>A (p.Arg502His) rs779174659
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter) rs1028838062
NM_006204.4(PDE6C):c.1580G>A (p.Arg527Gln) rs554790963
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) rs143394832
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236
NM_006204.4(PDE6C):c.1847+3_1847+6del rs1554890513
NM_006204.4(PDE6C):c.1935+10C>A rs1409332
NM_006204.4(PDE6C):c.1935+4C>T rs373290960
NM_006204.4(PDE6C):c.1936-9A>G rs182445749
NM_006204.4(PDE6C):c.1958T>C (p.Leu653Pro) rs863224908
NM_006204.4(PDE6C):c.2036+2T>G
NM_006204.4(PDE6C):c.2037-13G>C rs765202218
NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile) rs62642544
NM_006204.4(PDE6C):c.2096A>C (p.Glu699Ala) rs12261131
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter) rs756324901
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2144+15T>C rs201956926
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) rs1460255181
NM_006204.4(PDE6C):c.2190C>G (p.Pro730=) rs200939953
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter)
NM_006204.4(PDE6C):c.2208+13_2208+17del rs886047483
NM_006204.4(PDE6C):c.2208+14A>C rs61701022
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu) rs1554892155
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.2425A>C (p.Arg809=) rs1051926
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.2481A>C (p.Glu827Asp) rs779769374
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079
NM_006204.4(PDE6C):c.2512G>A (p.Glu838Lys) rs777275171
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser) rs201231586
NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu) rs142772345
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter)
NM_006204.4(PDE6C):c.446C>T (p.Thr149Met) rs139652451
NM_006204.4(PDE6C):c.497del (p.Asp166fs) rs1554888848
NM_006204.4(PDE6C):c.503T>A (p.Met168Lys) rs200506932
NM_006204.4(PDE6C):c.542C>T (p.Ala181Val) rs760690854
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu) rs1554888858
NM_006204.4(PDE6C):c.623A>G (p.Gln208Arg) rs886047481
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter) rs1554888861
NM_006204.4(PDE6C):c.724-15G>T rs141403797
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521
NM_006204.4(PDE6C):c.78del (p.Lys27fs) rs1554888353
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984
NM_006204.4(PDE6C):c.857del (p.Lys286fs) rs1554888978
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537
NM_006204.4(PDE6C):c.864+13C>T rs199559247
NM_006204.4(PDE6C):c.864+1G>A rs1023522305
NM_006204.4(PDE6C):c.939+4C>T rs371814026
NM_006204.4(PDE6C):c.939+9A>G rs886047482
NM_006204.4(PDE6C):c.986A>C (p.Glu329Ala) rs758391651
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463
NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs) rs1553227755
NM_007348.3:c.355_356dupG
NM_007348.4(ATF6):c.1110dup (p.Val371fs) rs797045174
NM_007348.4(ATF6):c.1187+5G>C rs761129859
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs)
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)
NM_007348.4(ATF6):c.1434-3T>A
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) rs796065053
NM_007348.4(ATF6):c.1784del (p.Leu595fs) rs1558022158
NM_007348.4(ATF6):c.199A>G (p.Met67Val)
NM_007348.4(ATF6):c.353del (p.Pro118fs) rs797045171
NM_007348.4(ATF6):c.355dup (p.Glu119Glyfs) rs869320751
NM_007348.4(ATF6):c.417dup (p.Asn140Ter) rs765383904
NM_007348.4(ATF6):c.511del (p.Ile171fs)
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) rs797045173
NM_007348.4(ATF6):c.82+5G>T rs797045170
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
NM_019098.4(CNGB3):c.*1093C>T rs886063156
NM_019098.4(CNGB3):c.*1183T>C rs78927155
NM_019098.4(CNGB3):c.*125G>C rs186370374
NM_019098.4(CNGB3):c.*1303G>A rs17683284
NM_019098.4(CNGB3):c.*1368T>C rs886063155
NM_019098.4(CNGB3):c.*1371G>T rs372688369
NM_019098.4(CNGB3):c.*1459C>T rs192543896
NM_019098.4(CNGB3):c.*1470G>C rs568808064
NM_019098.4(CNGB3):c.*1638G>A rs28471019
NM_019098.4(CNGB3):c.*1639C>A rs990192
NM_019098.4(CNGB3):c.*1701C>T rs886063154
NM_019098.4(CNGB3):c.*1881T>C rs990193
NM_019098.4(CNGB3):c.*206G>A rs886063159
NM_019098.4(CNGB3):c.*293T>C rs141717983
NM_019098.4(CNGB3):c.*379T>G rs188787381
NM_019098.4(CNGB3):c.*389A>C rs16915861
NM_019098.4(CNGB3):c.*51C>T rs189210452
NM_019098.4(CNGB3):c.*621G>A rs116835980
NM_019098.4(CNGB3):c.*731C>T rs886063158
NM_019098.4(CNGB3):c.*735A>G rs73269601
NM_019098.4(CNGB3):c.*778T>C rs16915859
NM_019098.4(CNGB3):c.*798A>C rs886063157
NM_019098.4(CNGB3):c.*84C>T rs372938106
NM_019098.4(CNGB3):c.*909_*910del rs3217489
NM_019098.4(CNGB3):c.-32T>C rs376141938
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.4(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.1056-2A>G rs1385347376
NM_019098.4(CNGB3):c.1056-3C>G rs1554611763
NM_019098.4(CNGB3):c.105_114del (p.Gln36fs)
NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792
NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160
NM_019098.4(CNGB3):c.1179-2A>T rs1057517167
NM_019098.4(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.4(CNGB3):c.1194T>G (p.Tyr398Ter) rs775038513
NM_019098.4(CNGB3):c.11C>A (p.Ser4Ter) rs376711003
NM_019098.4(CNGB3):c.1207C>T (p.Arg403Ter)
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1243C>T (p.Gln415Ter) rs1554610668
NM_019098.4(CNGB3):c.1255G>T (p.Glu419Ter) rs372302139
NM_019098.4(CNGB3):c.1260del (p.Ile420fs) rs1057516866
NM_019098.4(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.4(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.4(CNGB3):c.129+2T>C rs1554619498
NM_019098.4(CNGB3):c.1297_1298GT[1] (p.Phe434fs) rs1554610655
NM_019098.4(CNGB3):c.130-1G>T rs1554619303
NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.4(CNGB3):c.1320+4A>G rs1026427970
NM_019098.4(CNGB3):c.1356G>A (p.Gln452=) rs34839859
NM_019098.4(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.4(CNGB3):c.1397T>A (p.Met466Lys) rs35010099
NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) rs35010099
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) rs1554610279
NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564
NM_019098.4(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306
NM_019098.4(CNGB3):c.1460G>A (p.Trp487Ter) rs999921351
NM_019098.4(CNGB3):c.1480+1G>A rs1057516825
NM_019098.4(CNGB3):c.1481-2A>C rs1554609978
NM_019098.4(CNGB3):c.1492T>A (p.Leu498Met) rs115246141
NM_019098.4(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.4(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269
NM_019098.4(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.4(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676
NM_019098.4(CNGB3):c.1534A>G (p.Ile512Val) rs146062161
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) rs1554609956
NM_019098.4(CNGB3):c.1566_1569dup (p.Leu524fs) rs1554609946
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019098.4(CNGB3):c.1578+1G>T rs372006750
NM_019098.4(CNGB3):c.1578+2C>G rs1554609943
NM_019098.4(CNGB3):c.1579-1G>A rs1057516504
NM_019098.4(CNGB3):c.1579-2A>G rs772725807
NM_019098.4(CNGB3):c.1635T>A (p.Tyr545Ter) rs1554608319
NM_019098.4(CNGB3):c.163dup (p.Thr55fs) rs1057516782
NM_019098.4(CNGB3):c.1663-1205G>A
NM_019098.4(CNGB3):c.1663-2137C>T
NM_019098.4(CNGB3):c.1663-2660_1781+5516del
NM_019098.4(CNGB3):c.1663-5T>G rs964530890
NM_019098.4(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012
NM_019098.4(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.4(CNGB3):c.1700G>A (p.Gly567Glu)
NM_019098.4(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.4(CNGB3):c.1751T>C (p.Leu584Pro) rs1554607553
NM_019098.4(CNGB3):c.1774dup (p.Glu592fs) rs1554607548
NM_019098.4(CNGB3):c.1781+10A>T rs7000747
NM_019098.4(CNGB3):c.1781+1G>A rs1375507464
NM_019098.4(CNGB3):c.1781+1G>C rs1375507464
NM_019098.4(CNGB3):c.1781+1G>T
NM_019098.4(CNGB3):c.1781+1del rs1554607546
NM_019098.4(CNGB3):c.1782-2A>C rs1554604851
NM_019098.4(CNGB3):c.1782-3723_2103+739del
NM_019098.4(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087
NM_019098.4(CNGB3):c.1815T>G (p.Thr605=) rs143131185
NM_019098.4(CNGB3):c.1815del (p.Ala606fs) rs1362472371
NM_019098.4(CNGB3):c.1823T>A (p.Val608Glu) rs1554604833
NM_019098.4(CNGB3):c.1908del (p.Ile637fs) rs1057516571
NM_019098.4(CNGB3):c.190del (p.Glu64fs) rs1554619292
NM_019098.4(CNGB3):c.1928+2T>C rs1057517454
NM_019098.4(CNGB3):c.1929-2A>G rs1057517388
NM_019098.4(CNGB3):c.1937del (p.Leu645_Leu646insTer) rs745557293
NM_019098.4(CNGB3):c.2008G>T (p.Glu670Ter) rs1554604775
NM_019098.4(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853
NM_019098.4(CNGB3):c.208C>T (p.Gln70Ter) rs1052078370
NM_019098.4(CNGB3):c.2101C>T (p.Gln701Ter) rs1554604769
NM_019098.4(CNGB3):c.2103+1G>A rs1554604767
NM_019098.4(CNGB3):c.2103G>C (p.Gln701His) rs770214046
NM_019098.4(CNGB3):c.211+13T>G rs66881636
NM_019098.4(CNGB3):c.212-2527_338+2854del
NM_019098.4(CNGB3):c.212-3T>C rs79126074
NM_019098.4(CNGB3):c.212-6del rs745969238
NM_019098.4(CNGB3):c.218_219TC[1] (p.Ser74fs) rs1057517434
NM_019098.4(CNGB3):c.2214A>G (p.Glu738=) rs3735970
NM_019098.4(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.4(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971
NM_019098.4(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972
NM_019098.4(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe) rs78239264
NM_019098.4(CNGB3):c.2328del (p.Arg777fs)
NM_019098.4(CNGB3):c.2359del (p.Ser787fs) rs1554604525
NM_019098.4(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465
NM_019098.4(CNGB3):c.241G>A (p.Asp81Asn) rs148834016
NM_019098.4(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289
NM_019098.4(CNGB3):c.257del (p.Pro86fs) rs1554618420
NM_019098.4(CNGB3):c.265C>T (p.Gln89Ter) rs1554618417
NM_019098.4(CNGB3):c.281_284del (p.Pro94fs) rs1554618413
NM_019098.4(CNGB3):c.29dup (p.Val11fs) rs1442286151
NM_019098.4(CNGB3):c.2T>C (p.Met1Thr) rs1554619514
NM_019098.4(CNGB3):c.301C>T (p.Gln101Ter) rs1554618404
NM_019098.4(CNGB3):c.31dup (p.Val11fs) rs1554619509
NM_019098.4(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.4(CNGB3):c.339-17dup rs200792506
NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs) rs1554614423
NM_019098.4(CNGB3):c.3G>A (p.Met1Ile) rs1554619513
NM_019098.4(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.4(CNGB3):c.43G>C (p.Gly15Arg) rs150260103
NM_019098.4(CNGB3):c.445_447delinsT (p.Lys149fs) rs1554614402
NM_019098.4(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.494-11T>C rs543970676
NM_019098.4(CNGB3):c.494-21dup rs36008065
NM_019098.4(CNGB3):c.494-2A>T rs1554614157
NM_019098.4(CNGB3):c.556_559del (p.Arg186fs) rs1057517053
NM_019098.4(CNGB3):c.567del (p.Trp189fs) rs1057517052
NM_019098.4(CNGB3):c.589_590del (p.Leu197fs) rs1554614131
NM_019098.4(CNGB3):c.595G>A (p.Glu199Lys) rs114305748
NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) rs267606739
NM_019098.4(CNGB3):c.608G>A (p.Arg203Gln) rs16916632
NM_019098.4(CNGB3):c.624C>T (p.Asn208=) rs144347980
NM_019098.4(CNGB3):c.643+2T>C rs1391492794
NM_019098.4(CNGB3):c.643G>C (p.Asp215His) rs1174949911
NM_019098.4(CNGB3):c.644-1G>C rs201794629
NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter) rs768345097
NM_019098.4(CNGB3):c.670C>T (p.Leu224Phe) rs373286939
NM_019098.4(CNGB3):c.682dup (p.Ala228fs) rs1554614038
NM_019098.4(CNGB3):c.702T>A (p.Cys234Ter) rs6471482
NM_019098.4(CNGB3):c.702T>G (p.Cys234Trp) rs6471482
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs) rs1554614024
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs) rs1554614022
NM_019098.4(CNGB3):c.738C>T (p.Thr246=) rs781628736
NM_019098.4(CNGB3):c.739G>A (p.Ala247Thr) rs150490913
NM_019098.4(CNGB3):c.756C>G (p.Tyr252Ter) rs371318766
NM_019098.4(CNGB3):c.773T>C (p.Ile258Thr) rs886063162
NM_019098.4(CNGB3):c.782A>G (p.Asp261Gly)
NM_019098.4(CNGB3):c.791_794del (p.Tyr264fs) rs1554613998
NM_019098.4(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_019098.4(CNGB3):c.80A>G (p.Asn27Ser) rs35807406
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.819del (p.Arg274fs)
NM_019098.4(CNGB3):c.852+1G>C rs1201521544
NM_019098.4(CNGB3):c.852+1G>T
NM_019098.4(CNGB3):c.852+4013_903+1698dup
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs) rs1554612806
NM_019098.4(CNGB3):c.882C>G (p.Tyr294Ter) rs1554612805
NM_019098.4(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.4(CNGB3):c.892A>C (p.Thr298Pro) rs4961206
NM_019098.4(CNGB3):c.904-2824_1782-8208delinsKY923049.1g1_466
NM_019098.4(CNGB3):c.904-2A>T rs1554612159
NM_019098.4(CNGB3):c.913G>A (p.Ala305Thr) rs144637286
NM_019098.4(CNGB3):c.919A>G (p.Ile307Val) rs13265557
NM_019098.4(CNGB3):c.926C>T (p.Pro309Leu) rs1554612145
NM_019098.4(CNGB3):c.95dup (p.His32fs) rs1554619500
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
NM_145200.4(CABP4):c.646C>T (p.Arg216Ter) rs150115958
NM_145200.4(CABP4):c.773A>T (p.Asn258Ile)
PDE6H, -29G-C, 5-PRIME UTR
Single allele

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.