ClinVar Miner

List of variants in gene CNGB1 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_001297.5(CNGB1):c.217+6T>C rs148191900 0.00051
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala) rs201909863 0.00039
NM_001297.5(CNGB1):c.1828G>A (p.Ala610Thr) rs201302946 0.00024
NM_001297.5(CNGB1):c.3331G>A (p.Ala1111Thr) rs199660047 0.00021
NM_001297.5(CNGB1):c.1109A>G (p.Glu370Gly) rs371497836 0.00019
NM_001297.5(CNGB1):c.2990G>A (p.Arg997His) rs199552115 0.00019
NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met) rs376128303 0.00019
NM_001297.5(CNGB1):c.3692C>T (p.Pro1231Leu) rs369171197 0.00019
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys) rs370932519 0.00016
NM_001297.5(CNGB1):c.3415C>G (p.Leu1139Val) rs376171765 0.00015
NM_001297.5(CNGB1):c.2605G>A (p.Val869Ile) rs61735107 0.00014
NM_001297.5(CNGB1):c.3379G>A (p.Gly1127Ser) rs373477921 0.00012
NM_001297.5(CNGB1):c.3128C>T (p.Thr1043Met) rs200202348 0.00011
NM_001297.5(CNGB1):c.2134C>T (p.Arg712Cys) rs376051016 0.00010
NM_001297.5(CNGB1):c.2936G>A (p.Arg979His) rs576948875 0.00010
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) rs368328328 0.00009
NM_001297.5(CNGB1):c.3398G>A (p.Arg1133Gln) rs375348116 0.00009
NM_001297.5(CNGB1):c.1786G>A (p.Glu596Lys) rs199804324 0.00008
NM_001297.5(CNGB1):c.209G>A (p.Ser70Asn) rs201990326 0.00008
NM_001297.5(CNGB1):c.1276G>A (p.Glu426Lys) rs373888175 0.00007
NM_001297.5(CNGB1):c.1846G>A (p.Ala616Thr) rs779726773 0.00007
NM_001297.5(CNGB1):c.1189C>A (p.Pro397Thr) rs61742504 0.00006
NM_001297.5(CNGB1):c.1487C>A (p.Ala496Asp) rs759552359 0.00006
NM_001297.5(CNGB1):c.1583T>C (p.Leu528Ser) rs376369441 0.00006
NM_001297.5(CNGB1):c.2634+6G>A rs374018113 0.00006
NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) rs758922488 0.00006
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu) rs121918532 0.00006
NM_001297.5(CNGB1):c.3422C>T (p.Ala1141Val) rs562161300 0.00006
NM_001297.5(CNGB1):c.365C>T (p.Thr122Met) rs371879981 0.00006
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg) rs763165985 0.00006
NM_001297.5(CNGB1):c.1322C>T (p.Ala441Val) rs376374823 0.00005
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp) rs556362158 0.00005
NM_001297.5(CNGB1):c.1733G>A (p.Arg578Gln) rs371998765 0.00005
NM_001297.5(CNGB1):c.1987G>A (p.Val663Met) rs771774133 0.00005
NM_001297.5(CNGB1):c.3308C>T (p.Ala1103Val) rs377240706 0.00005
NM_001297.5(CNGB1):c.3686C>T (p.Pro1229Leu) rs376833687 0.00005
NM_001297.5(CNGB1):c.396C>T (p.Gly132=) rs377556935 0.00005
NM_001297.5(CNGB1):c.610G>A (p.Gly204Arg) rs201654405 0.00005
NM_001297.5(CNGB1):c.838G>A (p.Glu280Lys) rs914509294 0.00005
NM_001297.5(CNGB1):c.846_854del (p.Asp282_Gly285delinsGlu) rs760369077 0.00005
NM_001297.5(CNGB1):c.1306G>A (p.Glu436Lys) rs549685470 0.00004
NM_001297.5(CNGB1):c.1405G>T (p.Val469Leu) rs774061456 0.00004
NM_001297.5(CNGB1):c.1418A>T (p.Asp473Val) rs769808679 0.00004
NM_001297.5(CNGB1):c.2166+13C>T rs773375439 0.00004
NM_001297.5(CNGB1):c.2166+6T>G rs771401261 0.00004
NM_001297.5(CNGB1):c.2206C>T (p.Arg736Cys) rs569502373 0.00004
NM_001297.5(CNGB1):c.2219T>C (p.Met740Thr) rs781541993 0.00004
NM_001297.5(CNGB1):c.2230A>G (p.Ser744Gly) rs779904580 0.00004
NM_001297.5(CNGB1):c.2266G>A (p.Gly756Ser) rs398123605 0.00004
NM_001297.5(CNGB1):c.2274C>A (p.Asn758Lys) rs373363325 0.00004
NM_001297.5(CNGB1):c.2539G>A (p.Gly847Arg) rs200953727 0.00004
NM_001297.5(CNGB1):c.2543G>A (p.Gly848Glu) rs758072259 0.00004
NM_001297.5(CNGB1):c.3229C>T (p.Arg1077Trp) rs201023939 0.00004
NM_001297.5(CNGB1):c.3397C>T (p.Arg1133Trp) rs369943028 0.00004
NM_001297.5(CNGB1):c.3488G>A (p.Gly1163Glu) rs186853874 0.00004
NM_001297.5(CNGB1):c.3704A>G (p.Glu1235Gly) rs751167784 0.00004
NM_001297.5(CNGB1):c.534+4A>G rs754645788 0.00004
NM_001297.5(CNGB1):c.5T>G (p.Leu2Trp) rs781036792 0.00004
NM_001297.5(CNGB1):c.728C>A (p.Thr243Asn) rs556998723 0.00004
NM_001297.5(CNGB1):c.752A>T (p.Asp251Val) rs370285136 0.00004
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile) rs757827406 0.00004
NM_001297.5(CNGB1):c.1169G>A (p.Ser390Asn) rs748557193 0.00003
NM_001297.5(CNGB1):c.1208A>G (p.Gln403Arg) rs1478593744 0.00003
NM_001297.5(CNGB1):c.1642G>A (p.Asp548Asn) rs771283959 0.00003
NM_001297.5(CNGB1):c.1684G>A (p.Ala562Thr) rs571358157 0.00003
NM_001297.5(CNGB1):c.1771G>A (p.Val591Ile) rs746847813 0.00003
NM_001297.5(CNGB1):c.1802-3C>T rs1184796173 0.00003
NM_001297.5(CNGB1):c.1867G>A (p.Glu623Lys) rs1217395353 0.00003
NM_001297.5(CNGB1):c.1882G>A (p.Asp628Asn) rs574295098 0.00003
NM_001297.5(CNGB1):c.1909C>T (p.Arg637Cys) rs368926128 0.00003
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) rs761295014 0.00003
NM_001297.5(CNGB1):c.2795A>G (p.Asp932Gly) rs1960393842 0.00003
NM_001297.5(CNGB1):c.2813T>C (p.Val938Ala) rs771295293 0.00003
NM_001297.5(CNGB1):c.2893G>T (p.Gly965Cys) rs559591083 0.00003
NM_001297.5(CNGB1):c.3363C>T (p.Gly1121=) rs1382172841 0.00003
NM_001297.5(CNGB1):c.3506C>T (p.Ala1169Val) rs770227227 0.00003
NM_001297.5(CNGB1):c.3546C>A (p.Asp1182Glu) rs760331816 0.00003
NM_001297.5(CNGB1):c.724C>G (p.Gln242Glu) rs1482451622 0.00003
NM_001297.5(CNGB1):c.1148C>T (p.Ser383Leu) rs1340092292 0.00002
NM_001297.5(CNGB1):c.1693A>G (p.Asn565Asp) rs777737761 0.00002
NM_001297.5(CNGB1):c.1956C>T (p.Thr652=) rs372804572 0.00002
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_001297.5(CNGB1):c.2127C>G (p.Phe709Leu) rs370536830 0.00002
NM_001297.5(CNGB1):c.2135G>A (p.Arg712His) rs749886760 0.00002
NM_001297.5(CNGB1):c.2141A>G (p.Gln714Arg) rs199936918 0.00002
NM_001297.5(CNGB1):c.2189A>G (p.Asn730Ser) rs746465669 0.00002
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His) rs764107600 0.00002
NM_001297.5(CNGB1):c.2239C>A (p.Pro747Thr) rs974336687 0.00002
NM_001297.5(CNGB1):c.2332C>T (p.Arg778Cys) rs974814398 0.00002
NM_001297.5(CNGB1):c.2536A>G (p.Ile846Val) rs111880869 0.00002
NM_001297.5(CNGB1):c.2733G>C (p.Lys911Asn) rs1012577997 0.00002
NM_001297.5(CNGB1):c.2746C>T (p.Arg916Cys) rs764194863 0.00002
NM_001297.5(CNGB1):c.285G>T (p.Met95Ile) rs376053977 0.00002
NM_001297.5(CNGB1):c.2897G>A (p.Cys966Tyr) rs376947710 0.00002
NM_001297.5(CNGB1):c.3062C>T (p.Thr1021Met) rs774186674 0.00002
NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) rs368987059 0.00002
NM_001297.5(CNGB1):c.3384A>C (p.Lys1128Asn) rs981771347 0.00002
NM_001297.5(CNGB1):c.3404G>A (p.Arg1135Gln) rs766474948 0.00002
NM_001297.5(CNGB1):c.3437C>A (p.Ala1146Glu) rs1296087515 0.00002
NM_001297.5(CNGB1):c.3521C>T (p.Thr1174Met) rs758143647 0.00002
NM_001297.5(CNGB1):c.3634G>A (p.Glu1212Lys) rs777055578 0.00002
NM_001297.5(CNGB1):c.3664T>A (p.Ser1222Thr) rs772230733 0.00002
NM_001297.5(CNGB1):c.3683G>T (p.Ser1228Ile) rs754667137 0.00002
NM_001297.5(CNGB1):c.3G>A (p.Met1Ile) rs1230824209 0.00002
NM_001297.5(CNGB1):c.416G>A (p.Cys139Tyr) rs751079854 0.00002
NM_001297.5(CNGB1):c.46C>G (p.Pro16Ala) rs767982458 0.00002
NM_001297.5(CNGB1):c.60G>C (p.Lys20Asn) rs749405869 0.00002
NM_001297.5(CNGB1):c.1031C>T (p.Pro344Leu) rs139849141 0.00001
NM_001297.5(CNGB1):c.1045C>T (p.Arg349Trp) rs772092052 0.00001
NM_001297.5(CNGB1):c.1151A>G (p.Gln384Arg) rs1421545538 0.00001
NM_001297.5(CNGB1):c.1180G>A (p.Gly394Arg) rs564874122 0.00001
NM_001297.5(CNGB1):c.1196G>A (p.Ser399Asn) rs1352093340 0.00001
NM_001297.5(CNGB1):c.119A>C (p.Glu40Ala) rs1006717861 0.00001
NM_001297.5(CNGB1):c.1256A>G (p.Glu419Gly) rs754491100 0.00001
NM_001297.5(CNGB1):c.1355A>G (p.Glu452Gly) rs755722603 0.00001
NM_001297.5(CNGB1):c.1363A>T (p.Ser455Cys) rs750127832 0.00001
NM_001297.5(CNGB1):c.1393C>T (p.Pro465Ser) rs1238008286 0.00001
NM_001297.5(CNGB1):c.1465G>A (p.Val489Met) rs573860701 0.00001
NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys) rs1489659962 0.00001
NM_001297.5(CNGB1):c.1563G>T (p.Glu521Asp) rs1366129155 0.00001
NM_001297.5(CNGB1):c.158T>C (p.Met53Thr) rs764636892 0.00001
NM_001297.5(CNGB1):c.160C>A (p.Pro54Thr) rs200557535 0.00001
NM_001297.5(CNGB1):c.1612T>G (p.Trp538Gly) rs766409469 0.00001
NM_001297.5(CNGB1):c.161C>G (p.Pro54Arg) rs1350927024 0.00001
NM_001297.5(CNGB1):c.1625C>T (p.Thr542Ile) rs199920293 0.00001
NM_001297.5(CNGB1):c.1655G>A (p.Arg552His) rs540261785 0.00001
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys) rs768874859 0.00001
NM_001297.5(CNGB1):c.1738G>A (p.Glu580Lys) rs369515579 0.00001
NM_001297.5(CNGB1):c.1760T>C (p.Ile587Thr) rs201702756 0.00001
NM_001297.5(CNGB1):c.1775C>T (p.Thr592Ile) rs1960998163 0.00001
NM_001297.5(CNGB1):c.1799C>T (p.Pro600Leu) rs747968794 0.00001
NM_001297.5(CNGB1):c.1822G>A (p.Glu608Lys) rs772949180 0.00001
NM_001297.5(CNGB1):c.1910G>A (p.Arg637His) rs775102648 0.00001
NM_001297.5(CNGB1):c.1940G>A (p.Ser647Asn) rs955856871 0.00001
NM_001297.5(CNGB1):c.1941C>A (p.Ser647Arg) rs1187092335 0.00001
NM_001297.5(CNGB1):c.1957+6T>C rs1357196940 0.00001
NM_001297.5(CNGB1):c.1963A>G (p.Met655Val) rs775622559 0.00001
NM_001297.5(CNGB1):c.2026G>A (p.Val676Met) rs1452697207 0.00001
NM_001297.5(CNGB1):c.2130G>C (p.Gln710His) rs753640703 0.00001
NM_001297.5(CNGB1):c.2154C>T (p.Gly718=) rs541698458 0.00001
NM_001297.5(CNGB1):c.2168C>T (p.Thr723Met) rs768853177 0.00001
NM_001297.5(CNGB1):c.2173A>G (p.Lys725Glu) rs1220692474 0.00001
NM_001297.5(CNGB1):c.2186G>A (p.Arg729Gln) rs781104590 0.00001
NM_001297.5(CNGB1):c.2278C>T (p.Leu760Phe) rs572146377 0.00001
NM_001297.5(CNGB1):c.2296T>C (p.Cys766Arg) rs773682702 0.00001
NM_001297.5(CNGB1):c.2360A>G (p.Tyr787Cys) rs370288562 0.00001
NM_001297.5(CNGB1):c.2362G>A (p.Val788Met) rs780134614 0.00001
NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu) rs747258045 0.00001
NM_001297.5(CNGB1):c.245C>T (p.Thr82Ile) rs766414440 0.00001
NM_001297.5(CNGB1):c.2470G>C (p.Val824Leu) rs747921487 0.00001
NM_001297.5(CNGB1):c.2503T>C (p.Cys835Arg) rs773377435 0.00001
NM_001297.5(CNGB1):c.2540G>A (p.Gly847Glu) rs1203085426 0.00001
NM_001297.5(CNGB1):c.2558A>G (p.Lys853Arg) rs376117554 0.00001
NM_001297.5(CNGB1):c.2571A>C (p.Glu857Asp) rs764159018 0.00001
NM_001297.5(CNGB1):c.2606T>C (p.Val869Ala) rs1960495041 0.00001
NM_001297.5(CNGB1):c.2680C>T (p.Arg894Cys) rs1307817307 0.00001
NM_001297.5(CNGB1):c.2738T>C (p.Val913Ala) rs751512020 0.00001
NM_001297.5(CNGB1):c.2780C>T (p.Ser927Leu) rs1229568395 0.00001
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp) rs780651730 0.00001
NM_001297.5(CNGB1):c.2931G>C (p.Arg977Ser) rs755445621 0.00001
NM_001297.5(CNGB1):c.2966T>A (p.Val989Glu) rs576228876 0.00001
NM_001297.5(CNGB1):c.3008A>G (p.Gln1003Arg) rs758652454 0.00001
NM_001297.5(CNGB1):c.3019G>C (p.Val1007Leu) rs765061130 0.00001
NM_001297.5(CNGB1):c.3077C>A (p.Ser1026Tyr) rs781682721 0.00001
NM_001297.5(CNGB1):c.3098T>G (p.Leu1033Trp) rs779688908 0.00001
NM_001297.5(CNGB1):c.3101T>C (p.Leu1034Pro) rs1324144173 0.00001
NM_001297.5(CNGB1):c.3103G>C (p.Ala1035Pro) rs1960267126 0.00001
NM_001297.5(CNGB1):c.3121C>T (p.Arg1041Trp) rs775265608 0.00001
NM_001297.5(CNGB1):c.3124C>T (p.Arg1042Cys) rs1241546157 0.00001
NM_001297.5(CNGB1):c.3143C>T (p.Ala1048Val) rs755959274 0.00001
NM_001297.5(CNGB1):c.3145C>T (p.His1049Tyr) rs1960264486 0.00001
NM_001297.5(CNGB1):c.3255A>T (p.Arg1085Ser) rs772055206 0.00001
NM_001297.5(CNGB1):c.3293T>C (p.Ile1098Thr) rs1432448949 0.00001
NM_001297.5(CNGB1):c.3403C>T (p.Arg1135Trp) rs753974570 0.00001
NM_001297.5(CNGB1):c.3416T>C (p.Leu1139Pro) rs761651354 0.00001
NM_001297.5(CNGB1):c.3419C>T (p.Ala1140Val) rs774214610 0.00001
NM_001297.5(CNGB1):c.3431C>T (p.Ala1144Val) rs370962776 0.00001
NM_001297.5(CNGB1):c.344C>T (p.Pro115Leu) rs1464890085 0.00001
NM_001297.5(CNGB1):c.3505G>A (p.Ala1169Thr) rs780554214 0.00001
NM_001297.5(CNGB1):c.3542C>T (p.Thr1181Ile) rs1362191567 0.00001
NM_001297.5(CNGB1):c.358A>C (p.Ser120Arg) rs375397174 0.00001
NM_001297.5(CNGB1):c.3590C>A (p.Pro1197Gln) rs749978261 0.00001
NM_001297.5(CNGB1):c.3712C>G (p.Leu1238Val) rs1239122375 0.00001
NM_001297.5(CNGB1):c.3751G>C (p.Glu1251Gln) rs768947322 0.00001
NM_001297.5(CNGB1):c.411A>G (p.Thr137=) rs749051441 0.00001
NM_001297.5(CNGB1):c.515A>G (p.Gln172Arg) rs1205356751 0.00001
NM_001297.5(CNGB1):c.584C>T (p.Ala195Val) rs780237166 0.00001
NM_001297.5(CNGB1):c.596G>A (p.Arg199His) rs761720019 0.00001
NM_001297.5(CNGB1):c.709C>A (p.Pro237Thr) rs752714921 0.00001
NM_001297.5(CNGB1):c.734C>T (p.Ser245Phe) rs754864375 0.00001
NM_001297.5(CNGB1):c.797C>T (p.Ala266Val) rs747935592 0.00001
NM_001297.5(CNGB1):c.844G>C (p.Asp282His) rs780015277 0.00001
NM_001297.5(CNGB1):c.858A>G (p.Ile286Met) rs1319171358 0.00001
NM_001297.5(CNGB1):c.97A>G (p.Met33Val) rs757082296 0.00001
NC_000016.9:g.(?_57965600)_(58001190_?)dup
NM_001297.5(CNGB1):c.1003G>A (p.Glu335Lys) rs2149381761
NM_001297.5(CNGB1):c.1006G>A (p.Glu336Lys) rs2149381760
NM_001297.5(CNGB1):c.1011_1013del (p.Asn337del) rs2149381752
NM_001297.5(CNGB1):c.1019T>A (p.Val340Glu) rs2149381750
NM_001297.5(CNGB1):c.1028T>A (p.Met343Lys)
NM_001297.5(CNGB1):c.1030C>T (p.Pro344Ser) rs568206778
NM_001297.5(CNGB1):c.1035-12A>G rs2149381366
NM_001297.5(CNGB1):c.1046G>A (p.Arg349Gln)
NM_001297.5(CNGB1):c.1080AGAGGA[1] (p.Glu370_Glu371del) rs750979647
NM_001297.5(CNGB1):c.1089GGA[4] (p.Glu371del) rs141566950
NM_001297.5(CNGB1):c.1089GGA[7] (p.Glu371_Val372insGluGlu)
NM_001297.5(CNGB1):c.1097_1114del (p.Glu366_Glu371del)
NM_001297.5(CNGB1):c.1105G>C (p.Glu369Gln) rs2149381293
NM_001297.5(CNGB1):c.1118C>T (p.Thr373Ile)
NM_001297.5(CNGB1):c.112G>C (p.Glu38Gln) rs2149390170
NM_001297.5(CNGB1):c.1154T>C (p.Val385Ala)
NM_001297.5(CNGB1):c.1155G>A (p.Val385=) rs886165135
NM_001297.5(CNGB1):c.1157G>T (p.Gly386Val)
NM_001297.5(CNGB1):c.1186C>T (p.Arg396Trp) rs761209484
NM_001297.5(CNGB1):c.1187G>A (p.Arg396Gln)
NM_001297.5(CNGB1):c.1209+18C>T rs370097431
NM_001297.5(CNGB1):c.1209G>T (p.Gln403His)
NM_001297.5(CNGB1):c.1224_1235del (p.Val409_Glu412del) rs2149376118
NM_001297.5(CNGB1):c.122C>T (p.Pro41Leu)
NM_001297.5(CNGB1):c.1236G>C (p.Glu412Asp) rs2149376115
NM_001297.5(CNGB1):c.1270G>A (p.Glu424Lys)
NM_001297.5(CNGB1):c.1272G>T (p.Glu424Asp)
NM_001297.5(CNGB1):c.1324G>A (p.Glu442Lys)
NM_001297.5(CNGB1):c.1330A>G (p.Lys444Glu) rs1961604811
NM_001297.5(CNGB1):c.1331A>G (p.Lys444Arg)
NM_001297.5(CNGB1):c.1354G>A (p.Glu452Lys) rs1961603783
NM_001297.5(CNGB1):c.1387C>A (p.Gln463Lys)
NM_001297.5(CNGB1):c.1415C>T (p.Thr472Ile) rs1961360646
NM_001297.5(CNGB1):c.141G>C (p.Glu47Asp)
NM_001297.5(CNGB1):c.1436T>C (p.Leu479Pro)
NM_001297.5(CNGB1):c.1438A>G (p.Met480Val)
NM_001297.5(CNGB1):c.1495G>C (p.Asp499His) rs1961355142
NM_001297.5(CNGB1):c.1507G>C (p.Val503Leu) rs2149372017
NM_001297.5(CNGB1):c.1526G>T (p.Gly509Val)
NM_001297.5(CNGB1):c.1554G>C (p.Glu518Asp) rs1961100684
NM_001297.5(CNGB1):c.159+6A>C rs1962419015
NM_001297.5(CNGB1):c.160-12C>A rs374210189
NM_001297.5(CNGB1):c.1633A>G (p.Lys545Glu) rs777037205
NM_001297.5(CNGB1):c.163C>G (p.Pro55Ala) rs1198914984
NM_001297.5(CNGB1):c.1644-3C>G
NM_001297.5(CNGB1):c.1651G>C (p.Asp551His) rs2149366569
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu) rs374424738
NM_001297.5(CNGB1):c.1658C>T (p.Ala553Val) rs374424738
NM_001297.5(CNGB1):c.166G>A (p.Glu56Lys)
NM_001297.5(CNGB1):c.1672A>C (p.Ser558Arg) rs774536610
NM_001297.5(CNGB1):c.1678A>C (p.Asn560His) rs1567378197
NM_001297.5(CNGB1):c.1679A>G (p.Asn560Ser)
NM_001297.5(CNGB1):c.1683C>A (p.Ser561Arg) rs202034315
NM_001297.5(CNGB1):c.169G>A (p.Glu57Lys) rs1173171736
NM_001297.5(CNGB1):c.1700G>A (p.Arg567Gln)
NM_001297.5(CNGB1):c.1707G>C (p.Gln569His) rs1961000455
NM_001297.5(CNGB1):c.1710G>T (p.Glu570Asp) rs1085307820
NM_001297.5(CNGB1):c.1714G>T (p.Val572Leu)
NM_001297.5(CNGB1):c.1720C>T (p.Leu574Phe) rs940484020
NM_001297.5(CNGB1):c.1732C>T (p.Arg578Trp) rs375213691
NM_001297.5(CNGB1):c.1770C>A (p.Asp590Glu) rs770735553
NM_001297.5(CNGB1):c.1778C>G (p.Ser593Cys) rs2149366477
NM_001297.5(CNGB1):c.177C>G (p.Phe59Leu) rs1962342389
NM_001297.5(CNGB1):c.1799C>G (p.Pro600Arg) rs747968794
NM_001297.5(CNGB1):c.1801+5G>A
NM_001297.5(CNGB1):c.1826C>A (p.Pro609Gln)
NM_001297.5(CNGB1):c.1838C>T (p.Thr613Ile)
NM_001297.5(CNGB1):c.1855G>C (p.Glu619Gln)
NM_001297.5(CNGB1):c.185A>G (p.Glu62Gly) rs1962341944
NM_001297.5(CNGB1):c.1862T>C (p.Val621Ala)
NM_001297.5(CNGB1):c.1875C>G (p.His625Gln) rs1287450394
NM_001297.5(CNGB1):c.1907A>G (p.His636Arg) rs1960958935
NM_001297.5(CNGB1):c.1928A>G (p.Gln643Arg)
NM_001297.5(CNGB1):c.1932T>G (p.Phe644Leu) rs2149365829
NM_001297.5(CNGB1):c.1965G>A (p.Met655Ile)
NM_001297.5(CNGB1):c.1966_1967delinsCT (p.Tyr656Leu) rs2149364897
NM_001297.5(CNGB1):c.199G>A (p.Ala67Thr)
NM_001297.5(CNGB1):c.2026G>C (p.Val676Leu) rs1452697207
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu) rs375519490
NM_001297.5(CNGB1):c.2042C>G (p.Pro681Arg)
NM_001297.5(CNGB1):c.2045A>G (p.Tyr682Cys)
NM_001297.5(CNGB1):c.2053C>G (p.Pro685Ala) rs1308922108
NM_001297.5(CNGB1):c.2057A>G (p.Asp686Gly) rs1960898681
NM_001297.5(CNGB1):c.2083G>A (p.Asp695Asn) rs1262854071
NM_001297.5(CNGB1):c.2095G>A (p.Asp699Asn) rs746268207
NM_001297.5(CNGB1):c.2095G>C (p.Asp699His) rs746268207
NM_001297.5(CNGB1):c.2122G>A (p.Val708Met)
NM_001297.5(CNGB1):c.2165T>C (p.Ile722Thr)
NM_001297.5(CNGB1):c.2166+5G>A
NM_001297.5(CNGB1):c.2169G>A (p.Thr723=)
NM_001297.5(CNGB1):c.2197C>G (p.Leu733Val)
NM_001297.5(CNGB1):c.2217+4T>C
NM_001297.5(CNGB1):c.2252T>C (p.Leu751Pro)
NM_001297.5(CNGB1):c.2266G>C (p.Gly756Arg)
NM_001297.5(CNGB1):c.22G>A (p.Val8Met)
NM_001297.5(CNGB1):c.2300T>C (p.Leu767Ser) rs1960832667
NM_001297.5(CNGB1):c.2302A>C (p.Lys768Gln) rs1960832607
NM_001297.5(CNGB1):c.2304+6A>G rs201809716
NM_001297.5(CNGB1):c.2308A>C (p.Met770Leu)
NM_001297.5(CNGB1):c.2314T>A (p.Phe772Ile)
NM_001297.5(CNGB1):c.2317T>C (p.Phe773Leu) rs2149362738
NM_001297.5(CNGB1):c.2333G>A (p.Arg778His) rs374491029
NM_001297.5(CNGB1):c.2333G>T (p.Arg778Leu) rs374491029
NM_001297.5(CNGB1):c.2370-16T>A
NM_001297.5(CNGB1):c.2371G>T (p.Val791Phe)
NM_001297.5(CNGB1):c.242C>G (p.Ser81Cys) rs1962331329
NM_001297.5(CNGB1):c.2449G>A (p.Gly817Ser) rs1960722338
NM_001297.5(CNGB1):c.2501G>A (p.Arg834His) rs761295014
NM_001297.5(CNGB1):c.2504G>A (p.Cys835Tyr) rs1298762004
NM_001297.5(CNGB1):c.2527C>T (p.Leu843Phe) rs769683445
NM_001297.5(CNGB1):c.2531T>A (p.Ile844Asn) rs1960499131
NM_001297.5(CNGB1):c.2533A>G (p.Thr845Ala) rs907470991
NM_001297.5(CNGB1):c.2542G>A (p.Gly848Arg)
NM_001297.5(CNGB1):c.254T>G (p.Leu85Arg) rs1290411898
NM_001297.5(CNGB1):c.2597T>C (p.Phe866Ser)
NM_001297.5(CNGB1):c.2600C>T (p.Thr867Met)
NM_001297.5(CNGB1):c.2627T>G (p.Ile876Ser)
NM_001297.5(CNGB1):c.2634+4T>C rs202096769
NM_001297.5(CNGB1):c.2634+5C>T rs372812881
NM_001297.5(CNGB1):c.2634+6G>C rs374018113
NM_001297.5(CNGB1):c.2641G>A (p.Asp881Asn) rs1390089871
NM_001297.5(CNGB1):c.2660C>A (p.Thr887Asn)
NM_001297.5(CNGB1):c.2665G>A (p.Gly889Arg)
NM_001297.5(CNGB1):c.2670G>T (p.Gln890His)
NM_001297.5(CNGB1):c.2674TAC[1] (p.Tyr893del)
NM_001297.5(CNGB1):c.268G>A (p.Ala90Thr) rs368957667
NM_001297.5(CNGB1):c.2692G>A (p.Asp898Asn) rs1567369373
NM_001297.5(CNGB1):c.2695A>C (p.Ser899Arg)
NM_001297.5(CNGB1):c.2698A>G (p.Thr900Ala)
NM_001297.5(CNGB1):c.2699C>T (p.Thr900Met) rs558302615
NM_001297.5(CNGB1):c.2705A>C (p.Lys902Thr)
NM_001297.5(CNGB1):c.2707T>C (p.Tyr903His) rs924004848
NM_001297.5(CNGB1):c.2710A>C (p.Met904Leu)
NM_001297.5(CNGB1):c.2728C>G (p.Pro910Ala)
NM_001297.5(CNGB1):c.2737G>A (p.Val913Met)
NM_001297.5(CNGB1):c.2744A>G (p.Asn915Ser)
NM_001297.5(CNGB1):c.2752A>G (p.Lys918Glu)
NM_001297.5(CNGB1):c.2764G>A (p.Glu922Lys) rs373209562
NM_001297.5(CNGB1):c.2767T>A (p.Tyr923Asn) rs1960457123
NM_001297.5(CNGB1):c.2794+3A>G rs1454218315
NM_001297.5(CNGB1):c.2794+6A>G rs2149358442
NM_001297.5(CNGB1):c.2795-19T>A rs1960394940
NM_001297.5(CNGB1):c.2834G>A (p.Arg945Gln)
NM_001297.5(CNGB1):c.2839G>C (p.Asp947His)
NM_001297.5(CNGB1):c.284T>C (p.Met95Thr)
NM_001297.5(CNGB1):c.2881G>A (p.Ala961Thr)
NM_001297.5(CNGB1):c.2881_2882delinsAT (p.Ala961Ile) rs2149357427
NM_001297.5(CNGB1):c.290+4C>G rs1458415746
NM_001297.5(CNGB1):c.290+5T>C rs2149388540
NM_001297.5(CNGB1):c.2903G>A (p.Arg968Gln) rs1960384039
NM_001297.5(CNGB1):c.2915T>C (p.Phe972Ser)
NM_001297.5(CNGB1):c.292C>T (p.Pro98Ser) rs570828500
NM_001297.5(CNGB1):c.2948A>G (p.Tyr983Cys) rs750517469
NM_001297.5(CNGB1):c.2965G>A (p.Val989Met)
NM_001297.5(CNGB1):c.2977-8T>G rs1960280322
NM_001297.5(CNGB1):c.2977G>A (p.Gly993Arg) rs1960280058
NM_001297.5(CNGB1):c.297C>A (p.Ser99Arg)
NM_001297.5(CNGB1):c.2983A>T (p.Ile995Phe)
NM_001297.5(CNGB1):c.2989C>T (p.Arg997Cys)
NM_001297.5(CNGB1):c.3014G>A (p.Gly1005Glu)
NM_001297.5(CNGB1):c.3029T>C (p.Leu1010Ser) rs2149355734
NM_001297.5(CNGB1):c.3073_3081dup (p.Gly1025_Val1027dup) rs2149355705
NM_001297.5(CNGB1):c.3079G>A (p.Val1027Met)
NM_001297.5(CNGB1):c.3106G>C (p.Val1036Leu) rs750379218
NM_001297.5(CNGB1):c.3122G>A (p.Arg1041Gln) rs192178968
NM_001297.5(CNGB1):c.3125G>T (p.Arg1042Leu)
NM_001297.5(CNGB1):c.3147C>A (p.His1049Gln) rs200581517
NM_001297.5(CNGB1):c.3158A>C (p.Asn1053Thr) rs1299863739
NM_001297.5(CNGB1):c.3160C>T (p.Leu1054Phe)
NM_001297.5(CNGB1):c.3218A>G (p.Gln1073Arg) rs1960261310
NM_001297.5(CNGB1):c.3230G>A (p.Arg1077Gln)
NM_001297.5(CNGB1):c.3235A>G (p.Lys1079Glu) rs1960260452
NM_001297.5(CNGB1):c.3241A>G (p.Arg1081Gly)
NM_001297.5(CNGB1):c.3242+6T>C
NM_001297.5(CNGB1):c.3243-9T>G
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys) rs199780945
NM_001297.5(CNGB1):c.3245G>A (p.Arg1082His)
NM_001297.5(CNGB1):c.3274GAG[1] (p.Glu1093del)
NM_001297.5(CNGB1):c.3277G>A (p.Glu1093Lys) rs1959983076
NM_001297.5(CNGB1):c.328G>A (p.Val110Ile)
NM_001297.5(CNGB1):c.3319A>G (p.Lys1107Glu)
NM_001297.5(CNGB1):c.3322C>T (p.Leu1108Phe) rs2149351805
NM_001297.5(CNGB1):c.3337C>A (p.Leu1113Ile) rs1218592501
NM_001297.5(CNGB1):c.3353A>G (p.Lys1118Arg)
NM_001297.5(CNGB1):c.3355A>T (p.Met1119Leu) rs1293470776
NM_001297.5(CNGB1):c.3418G>T (p.Ala1140Ser)
NM_001297.5(CNGB1):c.3424C>G (p.Leu1142Val) rs1596945545
NM_001297.5(CNGB1):c.347A>G (p.Gln116Arg) rs2149387995
NM_001297.5(CNGB1):c.3493G>A (p.Glu1165Lys)
NM_001297.5(CNGB1):c.3515A>G (p.Gln1172Arg) rs751766451
NM_001297.5(CNGB1):c.3533A>T (p.Glu1178Val) rs1959850336
NM_001297.5(CNGB1):c.3559C>T (p.Arg1187Trp)
NM_001297.5(CNGB1):c.3571G>A (p.Glu1191Lys) rs777912112
NM_001297.5(CNGB1):c.3577C>T (p.Pro1193Ser) rs780383898
NM_001297.5(CNGB1):c.3578C>T (p.Pro1193Leu) rs1959846562
NM_001297.5(CNGB1):c.3582dup (p.Ser1195fs) rs2149350174
NM_001297.5(CNGB1):c.3589C>T (p.Pro1197Ser)
NM_001297.5(CNGB1):c.3616G>C (p.Gly1206Arg) rs1959843755
NM_001297.5(CNGB1):c.3629G>T (p.Gly1210Val)
NM_001297.5(CNGB1):c.3639G>C (p.Glu1213Asp) rs886052191
NM_001297.5(CNGB1):c.3643C>A (p.Pro1215Thr) rs1959842423
NM_001297.5(CNGB1):c.3653C>A (p.Pro1218His)
NM_001297.5(CNGB1):c.3655G>C (p.Glu1219Gln)
NM_001297.5(CNGB1):c.3662A>G (p.His1221Arg)
NM_001297.5(CNGB1):c.3665C>T (p.Ser1222Leu)
NM_001297.5(CNGB1):c.3671G>T (p.Arg1224Met)
NM_001297.5(CNGB1):c.3674T>A (p.Ile1225Asn)
NM_001297.5(CNGB1):c.3681G>A (p.Met1227Ile)
NM_001297.5(CNGB1):c.3689del (p.Gly1230fs) rs781337569
NM_001297.5(CNGB1):c.3713T>C (p.Leu1238Pro)
NM_001297.5(CNGB1):c.3743A>C (p.Glu1248Ala) rs2149350034
NM_001297.5(CNGB1):c.37C>G (p.Pro13Ala)
NM_001297.5(CNGB1):c.412+18G>T rs1197080417
NM_001297.5(CNGB1):c.428C>T (p.Pro143Leu) rs1962285916
NM_001297.5(CNGB1):c.440_448dup (p.Leu147_Ala149dup) rs756431055
NM_001297.5(CNGB1):c.446C>T (p.Ala149Val) rs2149387761
NM_001297.5(CNGB1):c.469C>T (p.Arg157Trp) rs775590206
NM_001297.5(CNGB1):c.476T>A (p.Leu159His) rs2149387027
NM_001297.5(CNGB1):c.505G>A (p.Val169Met)
NM_001297.5(CNGB1):c.518C>T (p.Pro173Leu) rs1962235033
NM_001297.5(CNGB1):c.524A>G (p.Lys175Arg)
NM_001297.5(CNGB1):c.532G>A (p.Glu178Lys)
NM_001297.5(CNGB1):c.535G>A (p.Val179Ile) rs1962220763
NM_001297.5(CNGB1):c.551C>T (p.Pro184Leu)
NM_001297.5(CNGB1):c.553G>A (p.Ala185Thr) rs2149386811
NM_001297.5(CNGB1):c.580C>T (p.Pro194Ser)
NM_001297.5(CNGB1):c.581C>G (p.Pro194Arg)
NM_001297.5(CNGB1):c.581C>T (p.Pro194Leu) rs1272010203
NM_001297.5(CNGB1):c.593G>A (p.Gly198Glu) rs1251833902
NM_001297.5(CNGB1):c.610G>C (p.Gly204Arg)
NM_001297.5(CNGB1):c.620T>C (p.Leu207Pro) rs774807951
NM_001297.5(CNGB1):c.623A>G (p.Gln208Arg) rs2149386554
NM_001297.5(CNGB1):c.628C>T (p.Arg210Trp)
NM_001297.5(CNGB1):c.629G>A (p.Arg210Gln) rs759153238
NM_001297.5(CNGB1):c.659C>T (p.Pro220Leu) rs756293354
NM_001297.5(CNGB1):c.667C>T (p.Pro223Ser)
NM_001297.5(CNGB1):c.72A>T (p.Glu24Asp)
NM_001297.5(CNGB1):c.761+3G>A
NM_001297.5(CNGB1):c.762G>T (p.Arg254Ser)
NM_001297.5(CNGB1):c.769G>A (p.Ala257Thr) rs771075912
NM_001297.5(CNGB1):c.781C>A (p.His261Asn)
NM_001297.5(CNGB1):c.803C>T (p.Pro268Leu)
NM_001297.5(CNGB1):c.837+6T>C rs1175038409
NM_001297.5(CNGB1):c.865G>A (p.Val289Met)
NM_001297.5(CNGB1):c.871A>C (p.Thr291Pro) rs1962115240
NM_001297.5(CNGB1):c.956A>G (p.Asp319Gly) rs1961919691
NM_001297.5(CNGB1):c.962G>A (p.Ser321Asn)
NM_001297.5(CNGB1):c.980C>G (p.Thr327Arg) rs910637111
NM_001297.5(CNGB1):c.987G>A (p.Val329=)
NM_001297.5(CNGB1):c.988G>A (p.Val330Ile)

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