ClinVar Miner

List of variants reported as likely benign for Cone-rod dystrophy 6; Leber congenital amaurosis 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 606
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HGVS dbSNP gnomAD frequency
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=)

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