ClinVar Miner

List of variants in gene CERKL studied for Retinitis pigmentosa

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Total variants: 52
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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.156C>T (p.Phe52=) rs1473295 0.40745
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.1463A>G (p.Glu488Gly) rs35955809 0.01014
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.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.900T>C (p.His300=) rs183252158 0.00020
NM_201548.5(CERKL):c.1237G>T (p.Val413Leu) rs145489428 0.00019
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.1462G>T (p.Glu488Ter) rs188492864 0.00006
NM_201548.5(CERKL):c.1159+8G>A rs201778792 0.00004
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 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.481+2T>G rs753994107 0.00002
NM_201548.5(CERKL):c.1219A>C (p.Ile407Leu) rs747024040 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.251A>T (p.Tyr84Phe) rs758960994 0.00001
NM_201548.5(CERKL):c.526C>T (p.Gln176Ter) rs988540767 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_201548.5(CERKL):c.677+547G>C rs1044562973 0.00001
NM_201548.5(CERKL):c.780del (p.Pro261fs) rs398122964 0.00001
NM_201548.5(CERKL):c.848T>C (p.Leu283Pro) rs772798578 0.00001
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer) rs776727320
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_201548.5(CERKL):c.1366-2A>G
NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs) rs1026405158
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.356del (p.Gly119fs) rs1559100189
NM_201548.5(CERKL):c.420del (p.Ile141fs) rs398122962
NM_201548.5(CERKL):c.450_451del (p.Ile150fs) rs1574489337
NM_201548.5(CERKL):c.454T>C (p.Phe152Leu) rs886055318
NM_201548.5(CERKL):c.568del (p.Val190fs)
NM_201548.5(CERKL):c.608T>G (p.Val203Gly) rs1689008063
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) rs769632183

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