ClinVar Miner

List of variants in gene CERKL reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
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.1073+11T>C rs186100602 0.00116
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00093
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
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.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.900T>C (p.His300=) rs183252158 0.00020
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.1500T>C (p.Asp500=) rs141656965 0.00012
NM_201548.5(CERKL):c.540A>G (p.Lys180=) rs149505471 0.00011
NM_201548.5(CERKL):c.895+13C>T rs187829374 0.00009
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.677+569C>T rs375177042 0.00005
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.950G>A (p.Arg317His) rs150587104 0.00004
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser) rs745341953 0.00004
NM_201548.5(CERKL):c.770G>A (p.Arg257Gln) rs762961333 0.00003
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.497C>T (p.Pro166Leu) rs1344137236 0.00002
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln) rs727503856 0.00001
NM_201548.5(CERKL):c.1192C>G (p.Gln398Glu) rs144793035 0.00001
NM_201548.5(CERKL):c.1219A>C (p.Ile407Leu) rs747024040 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.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.251A>T (p.Tyr84Phe) rs758960994 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.820+10T>C rs777113677 0.00001
NM_201548.5(CERKL):c.848T>C (p.Leu283Pro) rs772798578 0.00001
NM_201548.5(CERKL):c.1013G>A (p.Arg338Gln)
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.1166A>G (p.Asn389Ser) rs1687791244
NM_201548.5(CERKL):c.1174T>C (p.Trp392Arg) rs773416880
NM_201548.5(CERKL):c.1241C>G (p.Ala414Gly)
NM_201548.5(CERKL):c.1255G>A (p.Ala419Thr)
NM_201548.5(CERKL):c.129C>T (p.Ala43=) rs746107676
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_201548.5(CERKL):c.1368C>T (p.Phe456=) rs1687372607
NM_201548.5(CERKL):c.1370A>G (p.Asn457Ser)
NM_201548.5(CERKL):c.1442A>G (p.Asn481Ser)
NM_201548.5(CERKL):c.1449GGA[5] (p.Glu486dup) rs750109553
NM_201548.5(CERKL):c.1466C>A (p.Thr489Asn)
NM_201548.5(CERKL):c.150C>A (p.Gly50=)
NM_201548.5(CERKL):c.272A>G (p.Glu91Gly)
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_201548.5(CERKL):c.356del (p.Gly119fs) rs1559100189
NM_201548.5(CERKL):c.364C>G (p.Leu122Val) rs754571046
NM_201548.5(CERKL):c.390A>G (p.Gln130=)
NM_201548.5(CERKL):c.402G>A (p.Lys134=)
NM_201548.5(CERKL):c.454T>C (p.Phe152Leu) rs886055318
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.57A>C (p.Glu19Asp) rs1688202555
NM_201548.5(CERKL):c.608T>G (p.Val203Gly) rs1689008063
NM_201548.5(CERKL):c.617T>C (p.Met206Thr)
NM_201548.5(CERKL):c.639del (p.Ser214fs)
NM_201548.5(CERKL):c.677+590G>C rs1688623229
NM_201548.5(CERKL):c.677+621C>A
NM_201548.5(CERKL):c.734T>C (p.Leu245Pro) rs1688309475
NM_201548.5(CERKL):c.808T>G (p.Leu270Val)
NM_201548.5(CERKL):c.820+5G>C rs1469387754
NM_201548.5(CERKL):c.824C>A (p.Ser275Tyr) rs765183381
NM_201548.5(CERKL):c.872C>T (p.Thr291Ile) rs1264403798
NM_201548.5(CERKL):c.901G>A (p.Val301Ile) rs1453612133

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