ClinVar Miner

List of variants in gene CERKL studied for CERKL-related retinopathy

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.1506C>T (p.Asp502=) rs10180793 0.99229
NM_201548.5(CERKL):c.1133+13T>C rs12997453 0.58511
NM_201548.5(CERKL):c.896-18T>A rs13003064 0.58461
NM_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_201548.5(CERKL):c.677+665G>T rs7604902 0.24851
NM_201548.5(CERKL):c.239-49T>C rs6433924 0.24146
NM_201548.5(CERKL):c.239-12T>A rs6433923 0.22971
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) rs61750041 0.15130
NM_201548.5(CERKL):c.895+3A>G rs12623687 0.13988
NM_201548.5(CERKL):c.677+566G>T rs10185262 0.00821
NM_201548.5(CERKL):c.298T>G (p.Ser100Ala) rs34753159 0.00738
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) rs149078111 0.00370
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) rs141389059 0.00238
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_201548.5(CERKL):c.783T>C (p.Pro261=) rs77741297 0.00158
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_201548.5(CERKL):c.362C>T (p.Thr121Ile) rs143157602 0.00044
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_201548.5(CERKL):c.97T>G (p.Leu33Val) rs554167374 0.00038
NM_201548.5(CERKL):c.102G>T (p.Thr34=) rs149346187 0.00034
NM_201548.5(CERKL):c.602C>G (p.Thr201Ser) rs142996023 0.00026
NM_201548.5(CERKL):c.1237G>T (p.Val413Leu) rs145489428 0.00019
NM_201548.5(CERKL):c.1452G>C (p.Glu484Asp) rs146279858 0.00019
NM_201548.5(CERKL):c.134G>A (p.Arg45Gln) rs568128856 0.00018
NM_201548.5(CERKL):c.314G>A (p.Arg105Gln) rs529313774 0.00018
NM_201548.5(CERKL):c.1160-10T>G rs771126203 0.00016
NM_201548.5(CERKL):c.1316G>A (p.Arg439Gln) rs553792277 0.00012
NM_201548.5(CERKL):c.540A>G (p.Lys180=) rs149505471 0.00011
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) rs142530341 0.00009
NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro) rs746220721 0.00007
NM_201548.5(CERKL):c.327T>G (p.Val109=) rs907281117 0.00007
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter) rs188492864 0.00006
NM_201548.5(CERKL):c.250T>C (p.Tyr84His) rs1343928865 0.00004
NM_201548.5(CERKL):c.677+610A>G rs116063501 0.00004
NM_201548.5(CERKL):c.830A>G (p.Asn277Ser) rs200369970 0.00004
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser) rs745341953 0.00004
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter) rs398122963 0.00003
NM_201548.5(CERKL):c.770G>A (p.Arg257Gln) rs762961333 0.00003
NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) rs748394238 0.00002
NM_201548.5(CERKL):c.1204G>A (p.Val402Ile) rs372755116 0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) rs139300604 0.00002
NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser) rs768292284 0.00002
NM_201548.5(CERKL):c.163G>C (p.Gly55Arg) rs549986396 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_201548.5(CERKL):c.497C>T (p.Pro166Leu) rs1344137236 0.00002
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln) rs727503856 0.00001
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_201548.5(CERKL):c.1192C>G (p.Gln398Glu) rs144793035 0.00001
NM_201548.5(CERKL):c.1268G>A (p.Arg423Lys) rs755105366 0.00001
NM_201548.5(CERKL):c.1291C>G (p.Leu431Val) rs34150300 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.1445C>T (p.Pro482Leu) rs1459300740 0.00001
NM_201548.5(CERKL):c.1454A>G (p.Glu485Gly) rs369866192 0.00001
NM_201548.5(CERKL):c.1498G>A (p.Asp500Asn) rs771072583 0.00001
NM_201548.5(CERKL):c.239-2A>G rs776886395 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_201548.5(CERKL):c.365T>G (p.Leu122Arg) rs558913945 0.00001
NM_201548.5(CERKL):c.553G>C (p.Val185Leu) rs146698457 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_201548.5(CERKL):c.677+581G>A rs1574454654 0.00001
NM_201548.5(CERKL):c.677+613C>T rs199691281 0.00001
NM_201548.5(CERKL):c.678-1G>A rs1209393896 0.00001
NM_201548.5(CERKL):c.780del (p.Pro261fs) rs398122964 0.00001
NM_201548.5(CERKL):c.820+10T>C rs777113677 0.00001
NM_201548.5(CERKL):c.848T>C (p.Leu283Pro) rs772798578 0.00001
NM_201548.5(CERKL):c.921C>A (p.Cys307Ter) rs755238456 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_201548.4(CERKL):c.[674A>T];[769C>T]
NM_201548.5(CERKL):c.1043T>C (p.Phe348Ser) rs1687844821
NM_201548.5(CERKL):c.1064C>A (p.Ala355Glu) rs144917662
NM_201548.5(CERKL):c.1073+1G>A rs1283658402
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.1074-2A>C
NM_201548.5(CERKL):c.1074-2A>G rs2105803582
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer) rs776727320
NM_201548.5(CERKL):c.109C>T (p.Gln37Ter) rs1414280804
NM_201548.5(CERKL):c.112C>T (p.Gln38Ter) rs776566319
NM_201548.5(CERKL):c.1159+1G>A
NM_201548.5(CERKL):c.1160-2A>G
NM_201548.5(CERKL):c.1166A>G (p.Asn389Ser) rs1687791244
NM_201548.5(CERKL):c.1174T>C (p.Trp392Arg) rs773416880
NM_201548.5(CERKL):c.1225_1226insAAGG (p.Cys409Ter)
NM_201548.5(CERKL):c.1241C>G (p.Ala414Gly)
NM_201548.5(CERKL):c.1250del (p.Gly417fs)
NM_201548.5(CERKL):c.1255G>A (p.Ala419Thr)
NM_201548.5(CERKL):c.129C>T (p.Ala43=) rs746107676
NM_201548.5(CERKL):c.1347T>A (p.Tyr449Ter) rs770284500
NM_201548.5(CERKL):c.1350del (p.Ser451fs)
NM_201548.5(CERKL):c.1361del (p.Asn454fs)
NM_201548.5(CERKL):c.1361dup (p.Asn454fs) rs2105797158
NM_201548.5(CERKL):c.1365+1G>A rs1687649007
NM_201548.5(CERKL):c.1365+2T>C
NM_201548.5(CERKL):c.1366-1G>A rs1574426870
NM_201548.5(CERKL):c.1366-1G>T
NM_201548.5(CERKL):c.1366-2A>G
NM_201548.5(CERKL):c.1368C>T (p.Phe456=) rs1687372607
NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs) rs1026405158
NM_201548.5(CERKL):c.1389_1392dup (p.Thr465fs) rs1026405158
NM_201548.5(CERKL):c.1392C>G (p.Tyr464Ter) rs1241374922
NM_201548.5(CERKL):c.1404del (p.Glu468_Val469insTer) rs1238123416
NM_201548.5(CERKL):c.1421_1424del (p.Arg474fs)
NM_201548.5(CERKL):c.1449GGA[5] (p.Glu486dup) rs750109553
NM_201548.5(CERKL):c.1484del (p.Phe495fs)
NM_201548.5(CERKL):c.1534dup (p.Ile512fs)
NM_201548.5(CERKL):c.156_157insT (p.Glu53Ter) rs1574077466
NM_201548.5(CERKL):c.239-1G>A rs1559100465
NM_201548.5(CERKL):c.239-2A>C
NM_201548.5(CERKL):c.239-4dup rs201864646
NM_201548.5(CERKL):c.264T>C (p.Cys88=) rs765835624
NM_201548.5(CERKL):c.270del (p.Glu91fs)
NM_201548.5(CERKL):c.294_295del (p.Phe99fs)
NM_201548.5(CERKL):c.304A>T (p.Lys102Ter)
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_201548.5(CERKL):c.323_327del (p.Cys107_Ser108insTer) rs1685567937
NM_201548.5(CERKL):c.334C>T (p.Gln112Ter) rs772748858
NM_201548.5(CERKL):c.336del (p.Arg113fs)
NM_201548.5(CERKL):c.364C>G (p.Leu122Val) rs754571046
NM_201548.5(CERKL):c.366_367del (p.Phe123fs) rs1305408254
NM_201548.5(CERKL):c.385G>T (p.Glu129Ter)
NM_201548.5(CERKL):c.397_401del (p.Leu133fs) rs1457373962
NM_201548.5(CERKL):c.420del (p.Ile141fs) rs398122962
NM_201548.5(CERKL):c.450_451del (p.Ile150fs) rs1574489337
NM_201548.5(CERKL):c.482-1G>A
NM_201548.5(CERKL):c.52_55del (p.Glu18fs) rs2105569036
NM_201548.5(CERKL):c.541G>T (p.Glu181Ter)
NM_201548.5(CERKL):c.548C>T (p.Thr183Ile) rs762281053
NM_201548.5(CERKL):c.560_568del (p.Tyr187_Val190delinsPhe) rs2105846538
NM_201548.5(CERKL):c.566del (p.Lys189fs) rs1255407239
NM_201548.5(CERKL):c.568del (p.Val190fs)
NM_201548.5(CERKL):c.57A>C (p.Glu19Asp) rs1688202555
NM_201548.5(CERKL):c.613+1G>C
NM_201548.5(CERKL):c.613+2T>C
NM_201548.5(CERKL):c.637_638del (p.Leu213fs)
NM_201548.5(CERKL):c.645dup (p.Leu216fs) rs1688653833
NM_201548.5(CERKL):c.652del (p.Glu218fs)
NM_201548.5(CERKL):c.677+1G>A rs1005130980
NM_201548.5(CERKL):c.677+3A>G rs1553515435
NM_201548.5(CERKL):c.677+547G>A rs1044562973
NM_201548.5(CERKL):c.677+562del rs2105832223
NM_201548.5(CERKL):c.677+590G>C rs1688623229
NM_201548.5(CERKL):c.678-1G>C
NM_201548.5(CERKL):c.678-1G>T
NM_201548.5(CERKL):c.699T>C (p.Asp233=) rs769255785
NM_201548.5(CERKL):c.734T>C (p.Leu245Pro) rs1688309475
NM_201548.5(CERKL):c.752_755dup (p.Met253fs)
NM_201548.5(CERKL):c.758del (p.Met253fs) rs751149105
NM_201548.5(CERKL):c.808T>G (p.Leu270Val)
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545
NM_201548.5(CERKL):c.820+2C>G rs1328971667
NM_201548.5(CERKL):c.824C>A (p.Ser275Tyr) rs765183381
NM_201548.5(CERKL):c.848_849del (p.Leu283fs) rs2105805625
NM_201548.5(CERKL):c.872C>T (p.Thr291Ile) rs1264403798
NM_201548.5(CERKL):c.895+1G>A rs1283975197
NM_201548.5(CERKL):c.896-18T>C rs13003064
NM_201548.5(CERKL):c.901G>A (p.Val301Ile) rs1453612133
NM_201548.5(CERKL):c.93del (p.Leu32fs)
NM_201548.5(CERKL):c.954_961dup (p.Ser321fs) rs758116997

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