ClinVar Miner

List of variants studied for CNGA3-related retinopathy

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.72T>C (p.Asp24=) rs6727412 0.13838
NM_001298.3(CNGA3):c.*838T>C rs13395005 0.06587
NM_001298.2(CNGA3):c.-286C>T rs13408372 0.06490
NM_001298.3(CNGA3):c.*574C>T rs13429817 0.03505
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01129
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_001298.3(CNGA3):c.215+11A>G rs199755395 0.00490
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00467
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_001298.3(CNGA3):c.396-4G>A rs114951127 0.00360
NM_001298.3(CNGA3):c.353A>G (p.Gln118Arg) rs142837782 0.00305
NM_001298.3(CNGA3):c.1626C>T (p.Ser542=) rs78583671 0.00275
NM_001298.2(CNGA3):c.-383A>G rs143449407 0.00203
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_001298.3(CNGA3):c.*178C>T rs113687827 0.00122
NM_001298.3(CNGA3):c.1968G>A (p.Met656Ile) rs147293818 0.00120
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=) rs137950660 0.00102
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001298.3(CNGA3):c.566+6C>T rs199558955 0.00080
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=) rs181911949 0.00044
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) rs190014426 0.00034
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001298.3(CNGA3):c.1116C>T (p.Pro372=) rs201649850 0.00031
NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg) rs144099488 0.00031
NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr) rs61756692 0.00026
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=) rs77311157 0.00023
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) rs138934573 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.2(CNGA3):c.-271G>A rs192111633 0.00021
NM_001298.2(CNGA3):c.-388C>G rs748374868 0.00021
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001298.2(CNGA3):c.-326G>A rs886056487 0.00018
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu) rs141086649 0.00018
NM_001298.3(CNGA3):c.*516T>C rs886056492 0.00016
NM_001298.3(CNGA3):c.*60G>A rs546240673 0.00015
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.*1330A>G rs558882744 0.00013
NM_001298.2(CNGA3):c.-406C>T rs529394802 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser) rs183838250 0.00012
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu) rs148496805 0.00012
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001298.3(CNGA3):c.129G>A (p.Ser43=) rs372489647 0.00010
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001298.3(CNGA3):c.*1085G>A rs573445072 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001298.3(CNGA3):c.*1240C>T rs886056495 0.00006
NM_001298.3(CNGA3):c.*166G>A rs746901363 0.00006
NM_001298.3(CNGA3):c.*283G>A rs140093444 0.00006
NM_001298.3(CNGA3):c.-65G>C rs750494086 0.00006
NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu) rs370911601 0.00006
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_001298.3(CNGA3):c.80G>A (p.Arg27His) rs769433253 0.00006
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) rs552553452 0.00005
NM_001298.3(CNGA3):c.*1050A>G rs886056493 0.00004
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608 0.00004
NM_001298.3(CNGA3):c.144G>A (p.Pro48=) rs199670952 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001298.3(CNGA3):c.566+14G>A rs367748425 0.00004
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys) rs757167624 0.00003
NM_001298.3(CNGA3):c.1706G>A (p.Arg569His) rs201782746 0.00003
NM_001298.3(CNGA3):c.395+9C>T rs375494943 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 0.00003
NM_001298.3(CNGA3):c.661C>T (p.Arg221Ter) rs770713600 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln) rs746563618 0.00003
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) rs374258471 0.00003
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591 0.00003
NM_001298.3(CNGA3):c.*470C>T rs1273341168 0.00002
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_001298.3(CNGA3):c.1495C>T (p.Arg499Ter) rs1386641968 0.00002
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859 0.00002
NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln) rs745779023 0.00002
NM_001298.3(CNGA3):c.450-1G>A rs754158805 0.00002
NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu) rs199631623 0.00002
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile) rs143489966 0.00002
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter) rs1402442627 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001298.3(CNGA3):c.*316A>G rs1260317371 0.00001
NM_001298.3(CNGA3):c.*469A>G rs536138883 0.00001
NM_001298.3(CNGA3):c.*894C>T rs540492671 0.00001
NM_001298.3(CNGA3):c.1061A>G (p.Tyr354Cys) rs760524816 0.00001
NM_001298.3(CNGA3):c.1063A>G (p.Ser355Gly) rs748583869 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.1347G>A (p.Lys449=) rs778251470 0.00001
NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg) rs764918448 0.00001
NM_001298.3(CNGA3):c.154A>G (p.Met52Val) rs368962370 0.00001
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His) rs1330420689 0.00001
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) rs763041373 0.00001
NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg) rs1558821005 0.00001
NM_001298.3(CNGA3):c.1866C>T (p.Asp622=) rs886056490 0.00001
NM_001298.3(CNGA3):c.1A>T (p.Met1Leu) rs1324338876 0.00001
NM_001298.3(CNGA3):c.2050G>A (p.Gly684Arg) rs754086920 0.00001
NM_001298.3(CNGA3):c.225C>T (p.Arg75=) rs200404774 0.00001
NM_001298.3(CNGA3):c.238C>T (p.Leu80=) rs575326068 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys) rs994092587 0.00001
NM_001298.3(CNGA3):c.449+13A>G rs1692582037 0.00001
NM_001298.3(CNGA3):c.478G>A (p.Val160Met) rs373542579 0.00001
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) rs104893612 0.00001
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter) rs762773298 0.00001
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys) rs757650055 0.00001
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117 0.00001
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364 0.00001
NC_000002.12:g.98393909_98399093del
NM_001298.2(CNGA3):c.-381A>G rs1691615064
NM_001298.3(CNGA3):c.*269A>G rs1692950011
NM_001298.3(CNGA3):c.*418T>C rs886056491
NM_001298.3(CNGA3):c.*751T>C rs1692960843
NM_001298.3(CNGA3):c.*765G>A rs1692961283
NM_001298.3(CNGA3):c.*904C>T rs867630128
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.-43G>A rs886056488
NM_001298.3(CNGA3):c.1004G>A (p.Trp335Ter) rs2104246464
NM_001298.3(CNGA3):c.102-16A>G rs2279859
NM_001298.3(CNGA3):c.1076C>T (p.Ser359Phe) rs2104246690
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val)
NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu) rs2104246962
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer) rs958089715
NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=) rs1692911635
NM_001298.3(CNGA3):c.1168_1169del (p.Leu390fs)
NM_001298.3(CNGA3):c.1190G>T (p.Gly397Val)
NM_001298.3(CNGA3):c.1201T>C (p.Ser401Pro) rs916035276
NM_001298.3(CNGA3):c.1231del (p.Ala411fs)
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs) rs1692914478
NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu) rs1162745859
NM_001298.3(CNGA3):c.1268A>C (p.Tyr423Ser) rs2104247562
NM_001298.3(CNGA3):c.1273C>T (p.Gln425Ter) rs571419754
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala) rs1692916541
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs) rs1558820471
NM_001298.3(CNGA3):c.1320del (p.Trp440fs) rs1553450762
NM_001298.3(CNGA3):c.1366del (p.Val456fs) rs2104248068
NM_001298.3(CNGA3):c.1379del (p.Leu460fs) rs2104248132
NM_001298.3(CNGA3):c.1395_1412del (p.Lys465_Ile470del) rs1692921014
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
NM_001298.3(CNGA3):c.1451A>C (p.Gln484Pro)
NM_001298.3(CNGA3):c.1466G>T (p.Gly489Val) rs2104248683
NM_001298.3(CNGA3):c.1486C>T (p.Leu496=) rs747895951
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) rs745592705
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) rs786205532
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met) rs375928335
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1645G>T (p.Glu549Ter) rs1282613813
NM_001298.3(CNGA3):c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu)
NM_001298.3(CNGA3):c.1682_1683insACGCG (p.Asn562fs) rs2104249738
NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly) rs2104249895
NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg) rs2104250058
NM_001298.3(CNGA3):c.1771T>C (p.Tyr591His) rs2104250253
NM_001298.3(CNGA3):c.1773C>A (p.Tyr591Ter)
NM_001298.3(CNGA3):c.1775C>T (p.Pro592Leu) rs1374130283
NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg)
NM_001298.3(CNGA3):c.1845G>T (p.Glu615Asp) rs886056489
NM_001298.3(CNGA3):c.1889T>C (p.Val630Ala) rs2104250774
NM_001298.3(CNGA3):c.2013del (p.Gly672fs)
NM_001298.3(CNGA3):c.215+151T>C rs937725
NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter)
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) rs1692508715
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter) rs1692509021
NM_001298.3(CNGA3):c.384_387del (p.Asp128fs) rs2104205990
NM_001298.3(CNGA3):c.387del (p.Arg131fs) rs2104206033
NM_001298.3(CNGA3):c.396-11C>G
NM_001298.3(CNGA3):c.396-2_398dup rs2104213507
NM_001298.3(CNGA3):c.450-15T>G rs2104229048
NM_001298.3(CNGA3):c.464del (p.Lys155fs) rs2104229154
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001298.3(CNGA3):c.544A>G (p.Asn182Asp) rs2104229884
NM_001298.3(CNGA3):c.545A>G (p.Asn182Ser) rs2104229897
NM_001298.3(CNGA3):c.553C>G (p.Leu185Val) rs779715055
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) rs1574385431
NM_001298.3(CNGA3):c.566G>A (p.Arg189Lys) rs2104229996
NM_001298.3(CNGA3):c.580G>T (p.Glu194Ter)
NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro) rs1692797695
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) rs1330263985
NM_001298.3(CNGA3):c.591del (p.Glu198fs) rs2104235623
NM_001298.3(CNGA3):c.626C>A (p.Ser209Ter)
NM_001298.3(CNGA3):c.66C>T (p.Asp22=) rs2104175460
NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala) rs2104236067
NM_001298.3(CNGA3):c.674-1G>A rs949254623
NM_001298.3(CNGA3):c.715C>T (p.Leu239=) rs768456172
NM_001298.3(CNGA3):c.742C>T (p.Gln248Ter) rs2104245397
NM_001298.3(CNGA3):c.743A>G (p.Gln248Arg) rs2104245407
NM_001298.3(CNGA3):c.772C>G (p.Pro258Ala) rs1477725731
NM_001298.3(CNGA3):c.777C>A (p.Thr259=) rs138921037
NM_001298.3(CNGA3):c.778G>C (p.Asp260His) rs374258471
NM_001298.3(CNGA3):c.778dup (p.Asp260fs) rs756172609
NM_001298.3(CNGA3):c.77del (p.Asn26fs) rs2104175554
NM_001298.3(CNGA3):c.811C>A (p.Pro271Thr) rs149802213
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.851del (p.Leu284fs) rs1377331975
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) rs104893616
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) rs1692904914
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001298.3(CNGA3):c.955_963delinsACCAATGAAATGGAAAT (p.Cys319fs) rs2104246318
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) rs1311451829

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