ClinVar Miner

List of variants in gene GUCY2D reported as likely benign for cone-rod dystrophy 6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 608
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388 0.00111
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_000180.4(GUCY2D):c.306C>G (p.Pro102=) rs540877830 0.00103
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000180.4(GUCY2D):c.730A>C (p.Met244Leu) rs141956583 0.00049
NM_000180.4(GUCY2D):c.2181C>A (p.Gly727=) rs140628227 0.00032
NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr) rs1445892049 0.00032
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00031
NM_000180.4(GUCY2D):c.2769+15G>A rs377279983 0.00029
NM_000180.4(GUCY2D):c.2676C>T (p.Ile892=) rs140661218 0.00027
NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=) rs201196538 0.00025
NM_000180.4(GUCY2D):c.343T>C (p.Ser115Pro) rs562248093 0.00022
NM_000180.4(GUCY2D):c.1584A>G (p.Arg528=) rs144659131 0.00018
NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu) rs200586401 0.00018
NM_000180.4(GUCY2D):c.1776G>C (p.Val592=) rs376508683 0.00013
NM_000180.4(GUCY2D):c.2616G>A (p.Glu872=) rs369035095 0.00012
NM_000180.4(GUCY2D):c.1432C>T (p.Leu478=) rs138298187 0.00011
NM_000180.4(GUCY2D):c.2945-20G>A rs376439753 0.00011
NM_000180.4(GUCY2D):c.2184C>T (p.Asp728=) rs150422660 0.00010
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018 0.00009
NM_000180.4(GUCY2D):c.1624G>A (p.Gly542Ser) rs146570135 0.00009
NM_000180.4(GUCY2D):c.2763C>A (p.Val921=) rs776152947 0.00009
NM_000180.4(GUCY2D):c.1379-8C>T rs757158931 0.00008
NM_000180.4(GUCY2D):c.2334C>T (p.Val778=) rs371541944 0.00008
NM_000180.4(GUCY2D):c.3225-15G>A rs775550206 0.00008
NM_000180.4(GUCY2D):c.1312C>T (p.Arg438Cys) rs565948960 0.00007
NM_000180.4(GUCY2D):c.3129G>A (p.Thr1043=) rs200403362 0.00007
NM_000180.4(GUCY2D):c.1278C>T (p.Ser426=) rs746671374 0.00006
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000180.4(GUCY2D):c.1524C>T (p.Asp508=) rs200651999 0.00006
NM_000180.4(GUCY2D):c.2031A>G (p.Arg677=) rs200700723 0.00006
NM_000180.4(GUCY2D):c.2061C>T (p.His687=) rs140366544 0.00006
NM_000180.4(GUCY2D):c.2178C>T (p.Ala726=) rs377648185 0.00006
NM_000180.4(GUCY2D):c.219G>A (p.Pro73=) rs1324115702 0.00006
NM_000180.4(GUCY2D):c.2263+17C>T rs377349549 0.00006
NM_000180.4(GUCY2D):c.2331T>C (p.Pro777=) rs147201985 0.00006
NM_000180.4(GUCY2D):c.912C>A (p.Ala304=) rs534270598 0.00006
NM_000180.4(GUCY2D):c.1134G>A (p.Val378=) rs577806343 0.00005
NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp) rs755223158 0.00005
NM_000180.4(GUCY2D):c.1323A>T (p.Ser441=) rs780550917 0.00005
NM_000180.4(GUCY2D):c.1750-15C>T rs374969713 0.00005
NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=) rs150797198 0.00005
NM_000180.4(GUCY2D):c.1956+15G>A rs367711120 0.00005
NM_000180.4(GUCY2D):c.1227G>A (p.Ala409=) rs148448937 0.00004
NM_000180.4(GUCY2D):c.1463+20A>G rs371533971 0.00004
NM_000180.4(GUCY2D):c.1536T>C (p.Phe512=) rs376601845 0.00004
NM_000180.4(GUCY2D):c.1773C>T (p.Asn591=) rs758841128 0.00004
NM_000180.4(GUCY2D):c.1983C>T (p.Gly661=) rs756393266 0.00004
NM_000180.4(GUCY2D):c.2271G>A (p.Val757=) rs143607596 0.00004
NM_000180.4(GUCY2D):c.3102C>T (p.Gly1034=) rs749621660 0.00004
NM_000180.4(GUCY2D):c.3195C>G (p.Pro1065=) rs765119055 0.00004
NM_000180.4(GUCY2D):c.3282G>A (p.Leu1094=) rs281865413 0.00004
NM_000180.4(GUCY2D):c.885C>T (p.Leu295=) rs746924059 0.00004
NM_000180.4(GUCY2D):c.1180C>T (p.Leu394=) rs1207668008 0.00003
NM_000180.4(GUCY2D):c.1824G>A (p.Ala608=) rs765774591 0.00003
NM_000180.4(GUCY2D):c.24G>T (p.Ala8=) rs987666168 0.00003
NM_000180.4(GUCY2D):c.2770-7C>T rs745761477 0.00003
NM_000180.4(GUCY2D):c.3006G>A (p.Thr1002=) rs764749298 0.00003
NM_000180.4(GUCY2D):c.483G>A (p.Thr161=) rs762618243 0.00003
NM_000180.4(GUCY2D):c.510T>C (p.Asp170=) rs753886745 0.00003
NM_000180.4(GUCY2D):c.1044C>T (p.Gly348=) rs748665297 0.00002
NM_000180.4(GUCY2D):c.1518C>T (p.Thr506=) rs779132852 0.00002
NM_000180.4(GUCY2D):c.180C>T (p.Gly60=) rs753766842 0.00002
NM_000180.4(GUCY2D):c.1836G>A (p.Glu612=) rs1287364718 0.00002
NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=) rs776298636 0.00002
NM_000180.4(GUCY2D):c.2113+9C>G rs201717870 0.00002
NM_000180.4(GUCY2D):c.2172G>A (p.Thr724=) rs760472338 0.00002
NM_000180.4(GUCY2D):c.2250G>A (p.Glu750=) rs149560134 0.00002
NM_000180.4(GUCY2D):c.2263+18G>A rs547968529 0.00002
NM_000180.4(GUCY2D):c.2457G>C (p.Ser819=) rs149866657 0.00002
NM_000180.4(GUCY2D):c.2601G>C (p.Thr867=) rs760202269 0.00002
NM_000180.4(GUCY2D):c.2664C>T (p.Gly888=) rs764336613 0.00002
NM_000180.4(GUCY2D):c.2787C>T (p.Asp929=) rs746827007 0.00002
NM_000180.4(GUCY2D):c.2802C>T (p.Ala934=) rs1346164552 0.00002
NM_000180.4(GUCY2D):c.3051C>G (p.Arg1017=) rs143761257 0.00002
NM_000180.4(GUCY2D):c.3224+10C>T rs778736663 0.00002
NM_000180.4(GUCY2D):c.3273A>G (p.Arg1091=) rs375105072 0.00002
NM_000180.4(GUCY2D):c.429C>T (p.Ala143=) rs941216139 0.00002
NM_000180.4(GUCY2D):c.57C>G (p.Pro19=) rs1296984909 0.00002
NM_000180.4(GUCY2D):c.751C>T (p.Leu251=) rs753468278 0.00002
NM_000180.4(GUCY2D):c.999G>A (p.Glu333=) rs779241028 0.00002
NM_000180.4(GUCY2D):c.1026+15G>A rs556242786 0.00001
NM_000180.4(GUCY2D):c.102C>T (p.Pro34=) rs1262337868 0.00001
NM_000180.4(GUCY2D):c.1146C>T (p.Ile382=) rs776042543 0.00001
NM_000180.4(GUCY2D):c.1149G>C (p.Arg383=) rs1975741252 0.00001
NM_000180.4(GUCY2D):c.1224C>T (p.Asp408=) rs201054971 0.00001
NM_000180.4(GUCY2D):c.1230G>A (p.Ala410=) rs542570988 0.00001
NM_000180.4(GUCY2D):c.1317G>A (p.Gly439=) rs56056557 0.00001
NM_000180.4(GUCY2D):c.1329C>T (p.Pro443=) rs1292562609 0.00001
NM_000180.4(GUCY2D):c.1368C>T (p.Ile456=) rs1288235406 0.00001
NM_000180.4(GUCY2D):c.1378+12C>T rs759370090 0.00001
NM_000180.4(GUCY2D):c.1378+16C>G rs963135195 0.00001
NM_000180.4(GUCY2D):c.1440G>A (p.Gly480=) rs1445195113 0.00001
NM_000180.4(GUCY2D):c.1463+15G>T rs753328828 0.00001
NM_000180.4(GUCY2D):c.1494C>T (p.Ser498=) rs369663256 0.00001
NM_000180.4(GUCY2D):c.165G>T (p.Thr55=) rs1225559381 0.00001
NM_000180.4(GUCY2D):c.1669-14C>G rs761529451 0.00001
NM_000180.4(GUCY2D):c.1719C>A (p.Ile573=) rs377287956 0.00001
NM_000180.4(GUCY2D):c.1749+11G>A rs759723474 0.00001
NM_000180.4(GUCY2D):c.1750-7C>G rs918147589 0.00001
NM_000180.4(GUCY2D):c.1750-8C>G rs760765585 0.00001
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 0.00001
NM_000180.4(GUCY2D):c.1893C>T (p.Leu631=) rs763522643 0.00001
NM_000180.4(GUCY2D):c.1956+9C>T rs1975869254 0.00001
NM_000180.4(GUCY2D):c.2046C>T (p.Ile682=) rs772640099 0.00001
NM_000180.4(GUCY2D):c.2055C>T (p.His685=) rs762943482 0.00001
NM_000180.4(GUCY2D):c.2094G>A (p.Pro698=) rs747807494 0.00001
NM_000180.4(GUCY2D):c.2114-9C>T rs908880265 0.00001
NM_000180.4(GUCY2D):c.2247G>A (p.Leu749=) rs746893543 0.00001
NM_000180.4(GUCY2D):c.2264-16C>A rs747899948 0.00001
NM_000180.4(GUCY2D):c.2268G>C (p.Val756=) rs746058533 0.00001
NM_000180.4(GUCY2D):c.240C>A (p.Ala80=) rs979318508 0.00001
NM_000180.4(GUCY2D):c.2412+10T>C rs1446169314 0.00001
NM_000180.4(GUCY2D):c.2496G>A (p.Glu832=) rs1430681738 0.00001
NM_000180.4(GUCY2D):c.255C>T (p.Asn85=) rs1481027097 0.00001
NM_000180.4(GUCY2D):c.2682C>T (p.Ala894=) rs765266637 0.00001
NM_000180.4(GUCY2D):c.270G>A (p.Leu90=) rs1411984596 0.00001
NM_000180.4(GUCY2D):c.2718C>T (p.Asn906=) rs1299729703 0.00001
NM_000180.4(GUCY2D):c.276C>T (p.Gly92=) rs1180162649 0.00001
NM_000180.4(GUCY2D):c.2784G>C (p.Gly928=) rs763444638 0.00001
NM_000180.4(GUCY2D):c.2811G>A (p.Leu937=) rs759949982 0.00001
NM_000180.4(GUCY2D):c.2838G>A (p.Ala946=) rs143730352 0.00001
NM_000180.4(GUCY2D):c.2850C>A (p.Ala950=) rs750005559 0.00001
NM_000180.4(GUCY2D):c.2892C>G (p.Arg964=) rs151052136 0.00001
NM_000180.4(GUCY2D):c.2928C>T (p.Arg976=) rs761309365 0.00001
NM_000180.4(GUCY2D):c.2944+15T>G rs995953710 0.00001
NM_000180.4(GUCY2D):c.2944+18C>T rs553072849 0.00001
NM_000180.4(GUCY2D):c.2944+9C>T rs1309171387 0.00001
NM_000180.4(GUCY2D):c.2945-14C>T rs541055967 0.00001
NM_000180.4(GUCY2D):c.2945-18C>G rs573455326 0.00001
NM_000180.4(GUCY2D):c.3012C>T (p.Asn1004=) rs563005151 0.00001
NM_000180.4(GUCY2D):c.3036C>T (p.Thr1012=) rs376759049 0.00001
NM_000180.4(GUCY2D):c.3043+14G>A rs1178871111 0.00001
NM_000180.4(GUCY2D):c.3084C>G (p.Leu1028=) rs755088085 0.00001
NM_000180.4(GUCY2D):c.3139-6C>A rs745511852 0.00001
NM_000180.4(GUCY2D):c.3237C>T (p.His1079=) rs529348303 0.00001
NM_000180.4(GUCY2D):c.3291G>A (p.Ala1097=) rs1490101887 0.00001
NM_000180.4(GUCY2D):c.363G>A (p.Val121=) rs917247032 0.00001
NM_000180.4(GUCY2D):c.381G>A (p.Pro127=) rs1400180995 0.00001
NM_000180.4(GUCY2D):c.393G>A (p.Ala131=) rs1431229289 0.00001
NM_000180.4(GUCY2D):c.435C>A (p.Ile145=) rs904414208 0.00001
NM_000180.4(GUCY2D):c.54T>G (p.Gly18=) rs9905393 0.00001
NM_000180.4(GUCY2D):c.603G>C (p.Leu201=) rs369547545 0.00001
NM_000180.4(GUCY2D):c.621C>T (p.Ala207=) rs757257247 0.00001
NM_000180.4(GUCY2D):c.722-12C>T rs760426420 0.00001
NM_000180.4(GUCY2D):c.722-17C>A rs1598144504 0.00001
NM_000180.4(GUCY2D):c.750G>A (p.Leu250=) rs777436847 0.00001
NM_000180.4(GUCY2D):c.777C>A (p.Leu259=) rs778378811 0.00001
NM_000180.4(GUCY2D):c.81C>T (p.Pro27=) rs1361790718 0.00001
NM_000180.4(GUCY2D):c.1000C>T (p.Leu334=)
NM_000180.4(GUCY2D):c.1005C>T (p.Pro335=)
NM_000180.4(GUCY2D):c.1026+11C>G
NM_000180.4(GUCY2D):c.1026+11C>T
NM_000180.4(GUCY2D):c.1026+12C>T
NM_000180.4(GUCY2D):c.1026+13G>A rs769017393
NM_000180.4(GUCY2D):c.1026+13G>C
NM_000180.4(GUCY2D):c.1026+20G>A
NM_000180.4(GUCY2D):c.1026+7G>A
NM_000180.4(GUCY2D):c.1026+9T>C rs1975697140
NM_000180.4(GUCY2D):c.1027-12C>G
NM_000180.4(GUCY2D):c.1027-5T>A
NM_000180.4(GUCY2D):c.1027-7T>G rs780368194
NM_000180.4(GUCY2D):c.1027-7_1027-5del rs760494327
NM_000180.4(GUCY2D):c.1056C>T (p.Asp352=)
NM_000180.4(GUCY2D):c.1059G>A (p.Ala353=)
NM_000180.4(GUCY2D):c.105G>A (p.Arg35=)
NM_000180.4(GUCY2D):c.1069C>T (p.Leu357=)
NM_000180.4(GUCY2D):c.1092G>A (p.Ala364=)
NM_000180.4(GUCY2D):c.1092G>T (p.Ala364=)
NM_000180.4(GUCY2D):c.1101C>A (p.Ala367=)
NM_000180.4(GUCY2D):c.1101C>T (p.Ala367=)
NM_000180.4(GUCY2D):c.111G>A (p.Pro37=)
NM_000180.4(GUCY2D):c.1122C>T (p.Ser374=)
NM_000180.4(GUCY2D):c.1147C>A (p.Arg383=)
NM_000180.4(GUCY2D):c.1155G>A (p.Ala385=) rs149722832
NM_000180.4(GUCY2D):c.1155G>T (p.Ala385=)
NM_000180.4(GUCY2D):c.1173C>T (p.Cys391=)
NM_000180.4(GUCY2D):c.1176G>C (p.Gly392=)
NM_000180.4(GUCY2D):c.1191C>T (p.Asp397=)
NM_000180.4(GUCY2D):c.1221G>A (p.Thr407=)
NM_000180.4(GUCY2D):c.1230G>T (p.Ala410=)
NM_000180.4(GUCY2D):c.1242T>C (p.Leu414=)
NM_000180.4(GUCY2D):c.1269C>T (p.Ala423=)
NM_000180.4(GUCY2D):c.126G>T (p.Leu42=)
NM_000180.4(GUCY2D):c.1275C>A (p.Gly425=) rs779783880
NM_000180.4(GUCY2D):c.1284C>A (p.Leu428=)
NM_000180.4(GUCY2D):c.1284C>T (p.Leu428=) rs769023061
NM_000180.4(GUCY2D):c.1287C>T (p.Ser429=) rs532466020
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) rs141967896
NM_000180.4(GUCY2D):c.129T>C (p.Leu43=)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1305C>T (p.His435=) rs770719238
NM_000180.4(GUCY2D):c.1311G>A (p.Pro437=)
NM_000180.4(GUCY2D):c.1311G>C (p.Pro437=)
NM_000180.4(GUCY2D):c.1315G>C (p.Gly439Arg)
NM_000180.4(GUCY2D):c.1320A>G (p.Gly440=) rs2151800598
NM_000180.4(GUCY2D):c.132G>A (p.Leu44=) rs1385302975
NM_000180.4(GUCY2D):c.1335T>C (p.Pro445=)
NM_000180.4(GUCY2D):c.1344G>A (p.Ser448=)
NM_000180.4(GUCY2D):c.1344G>T (p.Ser448=)
NM_000180.4(GUCY2D):c.1347C>T (p.Cys449=)
NM_000180.4(GUCY2D):c.1359A>G (p.Pro453=)
NM_000180.4(GUCY2D):c.1365C>T (p.Asn455=)
NM_000180.4(GUCY2D):c.1378+14C>T
NM_000180.4(GUCY2D):c.1378+15C>A
NM_000180.4(GUCY2D):c.1378+19G>C
NM_000180.4(GUCY2D):c.1378+20del
NM_000180.4(GUCY2D):c.1378+8C>A rs1457493139
NM_000180.4(GUCY2D):c.1378+8C>G
NM_000180.4(GUCY2D):c.1378+9G>T rs1333086687
NM_000180.4(GUCY2D):c.1379-16G>A
NM_000180.4(GUCY2D):c.1379-16G>T
NM_000180.4(GUCY2D):c.1379-17T>C
NM_000180.4(GUCY2D):c.1379-19C>T
NM_000180.4(GUCY2D):c.1379-20T>G
NM_000180.4(GUCY2D):c.1379-5T>C
NM_000180.4(GUCY2D):c.1379-6C>T
NM_000180.4(GUCY2D):c.1389G>A (p.Pro463=)
NM_000180.4(GUCY2D):c.1395C>T (p.Leu465=)
NM_000180.4(GUCY2D):c.1416G>C (p.Leu472=)
NM_000180.4(GUCY2D):c.141C>G (p.Pro47=) rs1482857964
NM_000180.4(GUCY2D):c.1446C>T (p.Phe482=)
NM_000180.4(GUCY2D):c.144C>G (p.Pro48=)
NM_000180.4(GUCY2D):c.144C>T (p.Pro48=)
NM_000180.4(GUCY2D):c.1458T>C (p.Tyr486=)
NM_000180.4(GUCY2D):c.1463+16A>G
NM_000180.4(GUCY2D):c.1463+17G>A
NM_000180.4(GUCY2D):c.1463+8G>C
NM_000180.4(GUCY2D):c.1464-14T>G
NM_000180.4(GUCY2D):c.1464-15del rs761213112
NM_000180.4(GUCY2D):c.1464-19T>C
NM_000180.4(GUCY2D):c.1464-4C>T
NM_000180.4(GUCY2D):c.1464-6C>T
NM_000180.4(GUCY2D):c.1464-7C>T
NM_000180.4(GUCY2D):c.1464-8T>C
NM_000180.4(GUCY2D):c.1479C>T (p.His493=) rs377622295
NM_000180.4(GUCY2D):c.1497C>T (p.Gly499=)
NM_000180.4(GUCY2D):c.1503C>T (p.Asn501=)
NM_000180.4(GUCY2D):c.1506G>A (p.Lys502=)
NM_000180.4(GUCY2D):c.1518C>A (p.Thr506=)
NM_000180.4(GUCY2D):c.1527C>T (p.Asp509=)
NM_000180.4(GUCY2D):c.1542C>T (p.His514=)
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile) rs549834851
NM_000180.4(GUCY2D):c.1557C>T (p.Thr519=) rs1975769915
NM_000180.4(GUCY2D):c.1560T>C (p.Ser520=)
NM_000180.4(GUCY2D):c.1566+12A>C
NM_000180.4(GUCY2D):c.1566+12AG[2]
NM_000180.4(GUCY2D):c.1566+7G>A
NM_000180.4(GUCY2D):c.1567-13C>T
NM_000180.4(GUCY2D):c.1567-20C>T
NM_000180.4(GUCY2D):c.1567-9A>G
NM_000180.4(GUCY2D):c.1572C>T (p.Ala524=)
NM_000180.4(GUCY2D):c.1581T>C (p.Ser527=)
NM_000180.4(GUCY2D):c.1593G>A (p.Leu531=)
NM_000180.4(GUCY2D):c.159G>A (p.Val53=)
NM_000180.4(GUCY2D):c.1620C>T (p.Arg540=)
NM_000180.4(GUCY2D):c.1626C>G (p.Gly542=)
NM_000180.4(GUCY2D):c.1626C>T (p.Gly542=)
NM_000180.4(GUCY2D):c.165G>A (p.Thr55=)
NM_000180.4(GUCY2D):c.1668+11C>A
NM_000180.4(GUCY2D):c.1668+17C>A
NM_000180.4(GUCY2D):c.1668+17C>T
NM_000180.4(GUCY2D):c.1668+22_1668+25del
NM_000180.4(GUCY2D):c.1669-13C>A
NM_000180.4(GUCY2D):c.1669-13C>T
NM_000180.4(GUCY2D):c.1669-14C>A
NM_000180.4(GUCY2D):c.1669-15T>A
NM_000180.4(GUCY2D):c.1669-17C>T
NM_000180.4(GUCY2D):c.1669-18C>A
NM_000180.4(GUCY2D):c.1669-18C>G
NM_000180.4(GUCY2D):c.1669-19C>G
NM_000180.4(GUCY2D):c.1669-5T>C
NM_000180.4(GUCY2D):c.1669-9_1669-8del rs757259115
NM_000180.4(GUCY2D):c.1728A>G (p.Ala576=)
NM_000180.4(GUCY2D):c.1731C>A (p.Thr577=)
NM_000180.4(GUCY2D):c.1737G>A (p.Thr579=) rs761631031
NM_000180.4(GUCY2D):c.1749+14C>T rs2151801565
NM_000180.4(GUCY2D):c.1749+16G>A
NM_000180.4(GUCY2D):c.174C>T (p.Val58=)
NM_000180.4(GUCY2D):c.1750-12dup
NM_000180.4(GUCY2D):c.1750-16A>G rs772221900
NM_000180.4(GUCY2D):c.1750-16A>T
NM_000180.4(GUCY2D):c.1750-5C>T rs2151802315
NM_000180.4(GUCY2D):c.1752C>A (p.Leu584=)
NM_000180.4(GUCY2D):c.1779C>T (p.Ala593=)
NM_000180.4(GUCY2D):c.177G>T (p.Leu59=)
NM_000180.4(GUCY2D):c.1791G>A (p.Gly597=)
NM_000180.4(GUCY2D):c.1804C>A (p.Arg602=)
NM_000180.4(GUCY2D):c.1827C>T (p.Ala609=)
NM_000180.4(GUCY2D):c.1842C>T (p.Asn614=)
NM_000180.4(GUCY2D):c.1854C>T (p.Val618=) rs2151802387
NM_000180.4(GUCY2D):c.1863C>T (p.His621=)
NM_000180.4(GUCY2D):c.1893C>A (p.Leu631=) rs763522643
NM_000180.4(GUCY2D):c.1935C>T (p.Ser645=)
NM_000180.4(GUCY2D):c.1947C>T (p.Asp649=)
NM_000180.4(GUCY2D):c.1953C>T (p.Ile651=)
NM_000180.4(GUCY2D):c.1956+11G>C
NM_000180.4(GUCY2D):c.1956+13G>A
NM_000180.4(GUCY2D):c.1956+14G>T
NM_000180.4(GUCY2D):c.1956+19T>G
NM_000180.4(GUCY2D):c.1956+7G>A
NM_000180.4(GUCY2D):c.1957-11C>T
NM_000180.4(GUCY2D):c.1957-17A>G
NM_000180.4(GUCY2D):c.1957-7T>C
NM_000180.4(GUCY2D):c.1957-9C>A
NM_000180.4(GUCY2D):c.1957-9C>G
NM_000180.4(GUCY2D):c.195C>T (p.Asp65=)
NM_000180.4(GUCY2D):c.1977T>C (p.His659=)
NM_000180.4(GUCY2D):c.2067A>G (p.Arg689=)
NM_000180.4(GUCY2D):c.2073G>A (p.Leu691=)
NM_000180.4(GUCY2D):c.2076A>G (p.Glu692=)
NM_000180.4(GUCY2D):c.207T>C (p.Ser69=)
NM_000180.4(GUCY2D):c.207T>G (p.Ser69=)
NM_000180.4(GUCY2D):c.2082G>A (p.Gln694=)
NM_000180.4(GUCY2D):c.2103C>T (p.Pro701=)
NM_000180.4(GUCY2D):c.2113+10C>T rs1975877852
NM_000180.4(GUCY2D):c.2113+13T>C
NM_000180.4(GUCY2D):c.2113+9C>A rs201717870
NM_000180.4(GUCY2D):c.2113+9C>T
NM_000180.4(GUCY2D):c.2114-14T>C
NM_000180.4(GUCY2D):c.2114-15C>T
NM_000180.4(GUCY2D):c.2114-17C>A
NM_000180.4(GUCY2D):c.2114-17C>T rs770587800
NM_000180.4(GUCY2D):c.2114-17_2114-16delinsTT rs2151802757
NM_000180.4(GUCY2D):c.2114-18C>A
NM_000180.4(GUCY2D):c.2114-7T>A
NM_000180.4(GUCY2D):c.2114-8A>C
NM_000180.4(GUCY2D):c.2114-8A>G
NM_000180.4(GUCY2D):c.2127A>G (p.Thr709=) rs2151802773
NM_000180.4(GUCY2D):c.2133G>A (p.Pro711=)
NM_000180.4(GUCY2D):c.2142T>G (p.Leu714=)
NM_000180.4(GUCY2D):c.2145G>A (p.Arg715=)
NM_000180.4(GUCY2D):c.2157G>A (p.Leu719=) rs2151802788
NM_000180.4(GUCY2D):c.2163C>T (p.Arg721=)
NM_000180.4(GUCY2D):c.216C>T (p.Arg72=)
NM_000180.4(GUCY2D):c.2181C>T (p.Gly727=) rs140628227
NM_000180.4(GUCY2D):c.2190T>C (p.Phe730=)
NM_000180.4(GUCY2D):c.2193C>T (p.Ser731=)
NM_000180.4(GUCY2D):c.2238T>C (p.Tyr746=)
NM_000180.4(GUCY2D):c.2241C>T (p.Ala747=) rs2151802845
NM_000180.4(GUCY2D):c.2259C>T (p.Pro753=)
NM_000180.4(GUCY2D):c.2263+20G>A
NM_000180.4(GUCY2D):c.2264-10A>G rs1975905316
NM_000180.4(GUCY2D):c.2264-11C>T
NM_000180.4(GUCY2D):c.2264-14C>T
NM_000180.4(GUCY2D):c.2264-18G>C
NM_000180.4(GUCY2D):c.2264-7C>A
NM_000180.4(GUCY2D):c.2280G>T (p.Val760=)
NM_000180.4(GUCY2D):c.2286C>T (p.Ser762=)
NM_000180.4(GUCY2D):c.228C>T (p.Ala76=) rs1309007524
NM_000180.4(GUCY2D):c.2292T>C (p.Pro764=) rs1393165151
NM_000180.4(GUCY2D):c.2301T>C (p.Cys767=) rs2151803063
NM_000180.4(GUCY2D):c.2304G>A (p.Arg768=)
NM_000180.4(GUCY2D):c.2307C>G (p.Pro769=)
NM_000180.4(GUCY2D):c.2313G>A (p.Val771=)
NM_000180.4(GUCY2D):c.2343C>T (p.Ile781=)
NM_000180.4(GUCY2D):c.2345_2346delinsAT (p.Leu782His)
NM_000180.4(GUCY2D):c.235C>T (p.Leu79=)
NM_000180.4(GUCY2D):c.2376G>A (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2376G>C (p.Pro792=) rs770484034
NM_000180.4(GUCY2D):c.2400C>T (p.His800=)
NM_000180.4(GUCY2D):c.2409C>T (p.Asp803=)
NM_000180.4(GUCY2D):c.2412+11G>A
NM_000180.4(GUCY2D):c.2412+13G>A
NM_000180.4(GUCY2D):c.2412+16T>A
NM_000180.4(GUCY2D):c.2412+8G>A
NM_000180.4(GUCY2D):c.2412+8G>C
NM_000180.4(GUCY2D):c.2413-12T>C
NM_000180.4(GUCY2D):c.2413-13C>T
NM_000180.4(GUCY2D):c.2413-14C>G
NM_000180.4(GUCY2D):c.2413-18G>T
NM_000180.4(GUCY2D):c.2413-4C>T
NM_000180.4(GUCY2D):c.2413-6T>C
NM_000180.4(GUCY2D):c.2421C>T (p.Asn807=)
NM_000180.4(GUCY2D):c.2442G>A (p.Thr814=)
NM_000180.4(GUCY2D):c.2457G>A (p.Ser819=)
NM_000180.4(GUCY2D):c.2475G>A (p.Glu825=)
NM_000180.4(GUCY2D):c.2491C>T (p.Leu831=) rs771641368
NM_000180.4(GUCY2D):c.2493G>A (p.Leu831=)
NM_000180.4(GUCY2D):c.2505C>T (p.Ile835=) rs1216216065
NM_000180.4(GUCY2D):c.2514C>T (p.Arg838=)
NM_000180.4(GUCY2D):c.2517G>C (p.Thr839=)
NM_000180.4(GUCY2D):c.2526G>A (p.Leu842=)
NM_000180.4(GUCY2D):c.2544G>A (p.Lys848=)
NM_000180.4(GUCY2D):c.2550C>T (p.Asp850=)
NM_000180.4(GUCY2D):c.2556G>A (p.Leu852=)
NM_000180.4(GUCY2D):c.2562A>G (p.Thr854=)
NM_000180.4(GUCY2D):c.2576+15G>A
NM_000180.4(GUCY2D):c.2576+20G>A rs1975929620
NM_000180.4(GUCY2D):c.2576+7G>T
NM_000180.4(GUCY2D):c.2577-11G>A
NM_000180.4(GUCY2D):c.2577-6C>T
NM_000180.4(GUCY2D):c.2592C>T (p.Ala864=)
NM_000180.4(GUCY2D):c.2601G>A (p.Thr867=) rs760202269
NM_000180.4(GUCY2D):c.2613G>A (p.Val871=)
NM_000180.4(GUCY2D):c.2619C>T (p.Pro873=)
NM_000180.4(GUCY2D):c.261C>T (p.Asp87=) rs1392838271
NM_000180.4(GUCY2D):c.2628T>C (p.Phe876=)
NM_000180.4(GUCY2D):c.2641C>T (p.Leu881=)
NM_000180.4(GUCY2D):c.264C>A (p.Pro88=)
NM_000180.4(GUCY2D):c.264C>T (p.Pro88=) rs756121043
NM_000180.4(GUCY2D):c.2655C>T (p.Asp885=)
NM_000180.4(GUCY2D):c.2667C>T (p.Phe889=)
NM_000180.4(GUCY2D):c.267C>T (p.Gly89=)
NM_000180.4(GUCY2D):c.2700G>A (p.Glu900=) rs1379084211
NM_000180.4(GUCY2D):c.2710C>T (p.Leu904=)
NM_000180.4(GUCY2D):c.2769+14G>C
NM_000180.4(GUCY2D):c.2769+15G>C
NM_000180.4(GUCY2D):c.2769+16G>C
NM_000180.4(GUCY2D):c.2769+8G>A
NM_000180.4(GUCY2D):c.2769+9T>G
NM_000180.4(GUCY2D):c.2770-10C>T
NM_000180.4(GUCY2D):c.2770-13C>T
NM_000180.4(GUCY2D):c.2770-14_2770-12del
NM_000180.4(GUCY2D):c.2770-16C>T rs1975942786
NM_000180.4(GUCY2D):c.2770-20A>C
NM_000180.4(GUCY2D):c.2770-4C>G
NM_000180.4(GUCY2D):c.2770-4C>T
NM_000180.4(GUCY2D):c.2770-7C>A
NM_000180.4(GUCY2D):c.2770-9_2770-7del
NM_000180.4(GUCY2D):c.2775G>A (p.Glu925=)
NM_000180.4(GUCY2D):c.2805G>A (p.Ser935=)
NM_000180.4(GUCY2D):c.2808G>C (p.Gly936=)
NM_000180.4(GUCY2D):c.2823T>C (p.Asn941=)
NM_000180.4(GUCY2D):c.2835C>T (p.His945=)
NM_000180.4(GUCY2D):c.2838G>C (p.Ala946=)
NM_000180.4(GUCY2D):c.2859A>T (p.Ser953=)
NM_000180.4(GUCY2D):c.2860C>T (p.Leu954=)
NM_000180.4(GUCY2D):c.2871C>A (p.Leu957=)
NM_000180.4(GUCY2D):c.2877C>A (p.Ala959=)
NM_000180.4(GUCY2D):c.2877C>T (p.Ala959=)
NM_000180.4(GUCY2D):c.2892C>A (p.Arg964=)
NM_000180.4(GUCY2D):c.2916C>T (p.Pro972=)
NM_000180.4(GUCY2D):c.2928C>A (p.Arg976=) rs761309365
NM_000180.4(GUCY2D):c.2944+10G>C rs779480027
NM_000180.4(GUCY2D):c.2944+11G>A
NM_000180.4(GUCY2D):c.2944+14_2944+23dup
NM_000180.4(GUCY2D):c.2944+17C>G
NM_000180.4(GUCY2D):c.2944+18C>G
NM_000180.4(GUCY2D):c.2944+19_2944+26del
NM_000180.4(GUCY2D):c.2944+7C>T
NM_000180.4(GUCY2D):c.2945-11C>A
NM_000180.4(GUCY2D):c.2945-15C>T rs1975955681
NM_000180.4(GUCY2D):c.2945-16C>A
NM_000180.4(GUCY2D):c.2945-18C>A
NM_000180.4(GUCY2D):c.2946T>A (p.Gly982=)
NM_000180.4(GUCY2D):c.2946T>C (p.Gly982=) rs1290360925
NM_000180.4(GUCY2D):c.2961C>A (p.Gly987=) rs140936694
NM_000180.4(GUCY2D):c.2961C>T (p.Gly987=)
NM_000180.4(GUCY2D):c.2992C>T (p.Leu998=)
NM_000180.4(GUCY2D):c.2994G>A (p.Leu998=)
NM_000180.4(GUCY2D):c.3009C>T (p.Val1003=) rs1322441705
NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=)
NM_000180.4(GUCY2D):c.3018C>G (p.Ala1006=)
NM_000180.4(GUCY2D):c.3018C>T (p.Ala1006=)
NM_000180.4(GUCY2D):c.3043+11C>A
NM_000180.4(GUCY2D):c.3043+12G>A
NM_000180.4(GUCY2D):c.3043+14G>C
NM_000180.4(GUCY2D):c.3043+17_3043+27dup
NM_000180.4(GUCY2D):c.3044-10A>G
NM_000180.4(GUCY2D):c.3044-20G>A
NM_000180.4(GUCY2D):c.3044-5C>T
NM_000180.4(GUCY2D):c.3051C>A (p.Arg1017=)
NM_000180.4(GUCY2D):c.3054C>A (p.Ile1018=) rs2151803924
NM_000180.4(GUCY2D):c.3057C>T (p.His1019=) rs780426461
NM_000180.4(GUCY2D):c.306C>A (p.Pro102=)
NM_000180.4(GUCY2D):c.306C>T (p.Pro102=)
NM_000180.4(GUCY2D):c.309G>A (p.Glu103=)
NM_000180.4(GUCY2D):c.3126C>T (p.Arg1042=)
NM_000180.4(GUCY2D):c.3129G>C (p.Thr1043=)
NM_000180.4(GUCY2D):c.3133C>T (p.Leu1045=)
NM_000180.4(GUCY2D):c.3138+17A>G
NM_000180.4(GUCY2D):c.3139-13C>T
NM_000180.4(GUCY2D):c.3139-14C>T
NM_000180.4(GUCY2D):c.3139-4C>T
NM_000180.4(GUCY2D):c.3139-7dup
NM_000180.4(GUCY2D):c.3144G>A (p.Lys1048=) rs1406899978
NM_000180.4(GUCY2D):c.3147C>G (p.Gly1049=)
NM_000180.4(GUCY2D):c.3150C>T (p.Ala1050=)
NM_000180.4(GUCY2D):c.3186C>T (p.Phe1062=)
NM_000180.4(GUCY2D):c.3198C>T (p.Ile1066=)
NM_000180.4(GUCY2D):c.3207G>A (p.Pro1069=)
NM_000180.4(GUCY2D):c.3219A>G (p.Gln1073=)
NM_000180.4(GUCY2D):c.321G>T (p.Thr107=) rs2151799365
NM_000180.4(GUCY2D):c.3222G>A (p.Pro1074=)
NM_000180.4(GUCY2D):c.3224+11_3224+44del
NM_000180.4(GUCY2D):c.3224+16C>A
NM_000180.4(GUCY2D):c.3224+20G>A
NM_000180.4(GUCY2D):c.3224+7G>A rs2151804152
NM_000180.4(GUCY2D):c.3225-10C>G
NM_000180.4(GUCY2D):c.3225-11C>A
NM_000180.4(GUCY2D):c.3225-11C>G
NM_000180.4(GUCY2D):c.3225-11C>T rs1261330161
NM_000180.4(GUCY2D):c.3225-12C>G rs999074662
NM_000180.4(GUCY2D):c.3225-14C>A rs1351613687
NM_000180.4(GUCY2D):c.3225-16C>G
NM_000180.4(GUCY2D):c.3225-19C>T
NM_000180.4(GUCY2D):c.3225-8C>T
NM_000180.4(GUCY2D):c.3228C>T (p.Ser1076=)
NM_000180.4(GUCY2D):c.3234C>T (p.Asn1078=)
NM_000180.4(GUCY2D):c.324G>T (p.Pro108=)
NM_000180.4(GUCY2D):c.3264C>G (p.Pro1088=)
NM_000180.4(GUCY2D):c.3274C>A (p.Arg1092=) rs746525316
NM_000180.4(GUCY2D):c.327C>G (p.Gly109=) rs2151799371
NM_000180.4(GUCY2D):c.327C>T (p.Gly109=)
NM_000180.4(GUCY2D):c.3289G>A (p.Ala1097Thr)
NM_000180.4(GUCY2D):c.3297G>C (p.Pro1099=)
NM_000180.4(GUCY2D):c.330G>T (p.Ser110=)
NM_000180.4(GUCY2D):c.339C>T (p.Ala113=)
NM_000180.4(GUCY2D):c.348C>T (p.Ser116=) rs1598144036
NM_000180.4(GUCY2D):c.352C>T (p.Leu118=)
NM_000180.4(GUCY2D):c.366G>C (p.Ser122=) rs1975671932
NM_000180.4(GUCY2D):c.36G>A (p.Pro12=)
NM_000180.4(GUCY2D):c.372C>A (p.Leu124=)
NM_000180.4(GUCY2D):c.372C>T (p.Leu124=)
NM_000180.4(GUCY2D):c.381G>C (p.Pro127=)
NM_000180.4(GUCY2D):c.408C>A (p.Ala136=)
NM_000180.4(GUCY2D):c.414G>C (p.Leu138=)
NM_000180.4(GUCY2D):c.417C>A (p.Leu139=)
NM_000180.4(GUCY2D):c.417C>T (p.Leu139=)
NM_000180.4(GUCY2D):c.420C>T (p.Ala140=)
NM_000180.4(GUCY2D):c.42C>T (p.Pro14=)
NM_000180.4(GUCY2D):c.438G>A (p.Ala146=)
NM_000180.4(GUCY2D):c.438G>T (p.Ala146=)
NM_000180.4(GUCY2D):c.456C>T (p.Cys152=)
NM_000180.4(GUCY2D):c.459C>T (p.Pro153=) rs2151799423
NM_000180.4(GUCY2D):c.45G>T (p.Gly15=)
NM_000180.4(GUCY2D):c.468G>A (p.Gln156=)
NM_000180.4(GUCY2D):c.471G>A (p.Ala157=)
NM_000180.4(GUCY2D):c.489T>G (p.Pro163=)
NM_000180.4(GUCY2D):c.492C>G (p.Ala164=)
NM_000180.4(GUCY2D):c.492C>T (p.Ala164=)
NM_000180.4(GUCY2D):c.507G>T (p.Ala169=)
NM_000180.4(GUCY2D):c.516C>G (p.Leu172=)
NM_000180.4(GUCY2D):c.516C>T (p.Leu172=)
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) rs794727237
NM_000180.4(GUCY2D):c.525G>A (p.Leu175=) rs570251619
NM_000180.4(GUCY2D):c.531C>T (p.Arg177=)
NM_000180.4(GUCY2D):c.534A>G (p.Ala178=) rs758629545
NM_000180.4(GUCY2D):c.534A>T (p.Ala178=)
NM_000180.4(GUCY2D):c.556C>T (p.Leu186=)
NM_000180.4(GUCY2D):c.567C>G (p.Ala189=)
NM_000180.4(GUCY2D):c.573G>A (p.Gln191=)
NM_000180.4(GUCY2D):c.591G>C (p.Ala197=)
NM_000180.4(GUCY2D):c.609G>A (p.Thr203=)
NM_000180.4(GUCY2D):c.60G>C (p.Ala20=)
NM_000180.4(GUCY2D):c.618G>A (p.Arg206=)
NM_000180.4(GUCY2D):c.624G>A (p.Arg208=)
NM_000180.4(GUCY2D):c.628C>T (p.Leu210=)
NM_000180.4(GUCY2D):c.630G>A (p.Leu210=)
NM_000180.4(GUCY2D):c.636C>T (p.Val212=)
NM_000180.4(GUCY2D):c.642C>G (p.Ser214=)
NM_000180.4(GUCY2D):c.660C>T (p.Pro220=)
NM_000180.4(GUCY2D):c.667C>T (p.Leu223=)
NM_000180.4(GUCY2D):c.669G>T (p.Leu223=)
NM_000180.4(GUCY2D):c.672T>C (p.Ser224=)
NM_000180.4(GUCY2D):c.679C>A (p.Arg227=) rs1366343667
NM_000180.4(GUCY2D):c.681G>A (p.Arg227=)
NM_000180.4(GUCY2D):c.69T>A (p.Ala23=)
NM_000180.4(GUCY2D):c.705C>T (p.Asp235=)
NM_000180.4(GUCY2D):c.708G>T (p.Gly236=)
NM_000180.4(GUCY2D):c.711C>A (p.Pro237=) rs750484873
NM_000180.4(GUCY2D):c.711C>T (p.Pro237=)
NM_000180.4(GUCY2D):c.714G>A (p.Arg238=)
NM_000180.4(GUCY2D):c.717C>G (p.Val239=)
NM_000180.4(GUCY2D):c.721+10C>T
NM_000180.4(GUCY2D):c.721+17G>A
NM_000180.4(GUCY2D):c.721+17G>T
NM_000180.4(GUCY2D):c.721+8C>G
NM_000180.4(GUCY2D):c.721+9C>T
NM_000180.4(GUCY2D):c.722-4G>A
NM_000180.4(GUCY2D):c.722-5C>T
NM_000180.4(GUCY2D):c.723A>G (p.Ala241=) rs1288920920
NM_000180.4(GUCY2D):c.726G>A (p.Val242=) rs886038268
NM_000180.4(GUCY2D):c.735G>A (p.Val245=)
NM_000180.4(GUCY2D):c.744G>C (p.Ser248=)
NM_000180.4(GUCY2D):c.75C>T (p.Ser25=)
NM_000180.4(GUCY2D):c.786C>T (p.Ala262=)
NM_000180.4(GUCY2D):c.78G>T (p.Leu26=) rs2151799217
NM_000180.4(GUCY2D):c.804G>A (p.Leu268=)
NM_000180.4(GUCY2D):c.807C>T (p.Thr269=)
NM_000180.4(GUCY2D):c.813C>T (p.Gly271=)
NM_000180.4(GUCY2D):c.819G>A (p.Leu273=)
NM_000180.4(GUCY2D):c.822C>G (p.Val274=)
NM_000180.4(GUCY2D):c.822C>T (p.Val274=) rs2151799672
NM_000180.4(GUCY2D):c.834C>T (p.Phe278=) rs1248892843
NM_000180.4(GUCY2D):c.840G>A (p.Thr280=)
NM_000180.4(GUCY2D):c.840G>T (p.Thr280=) rs370291650
NM_000180.4(GUCY2D):c.843C>A (p.Ile281=)
NM_000180.4(GUCY2D):c.849C>T (p.Tyr283=)
NM_000180.4(GUCY2D):c.858C>G (p.Ser286=)
NM_000180.4(GUCY2D):c.879C>T (p.Ala293=)
NM_000180.4(GUCY2D):c.87C>G (p.Leu29=)
NM_000180.4(GUCY2D):c.909G>A (p.Arg303=) rs772311336
NM_000180.4(GUCY2D):c.915C>T (p.His305=) rs1975693104
NM_000180.4(GUCY2D):c.93G>T (p.Arg31=)
NM_000180.4(GUCY2D):c.954A>G (p.Glu318=)
NM_000180.4(GUCY2D):c.964C>T (p.Leu322=) rs563208176
NM_000180.4(GUCY2D):c.969C>T (p.Asp323=)
NM_000180.4(GUCY2D):c.978C>T (p.Arg326=) rs2151799758
NM_000180.4(GUCY2D):c.990G>A (p.Glu330=) rs2151799762
NM_000180.4(GUCY2D):c.993C>T (p.Arg331=)
NM_000180.4(GUCY2D):c.996C>T (p.Arg332=)

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.