ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 26

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_201548.5(CERKL):c.222del (p.Gln74fs) rs1476585944 0.00003
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) rs139300604 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.239-2A>G rs776886395 0.00001
NM_201548.5(CERKL):c.2T>G (p.Met1Arg) rs1187991259 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 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.678-1G>A rs1209393896 0.00001
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>G rs2105803582
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.1225_1226insAAGG (p.Cys409Ter)
NM_201548.5(CERKL):c.1347T>A (p.Tyr449Ter) rs770284500
NM_201548.5(CERKL):c.1361dup (p.Asn454fs) rs2105797158
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.1389_1392del (p.Tyr464fs) rs1026405158
NM_201548.5(CERKL):c.1392C>G (p.Tyr464Ter) rs1241374922
NM_201548.5(CERKL):c.1421_1424del (p.Arg474fs)
NM_201548.5(CERKL):c.1484del (p.Phe495fs)
NM_201548.5(CERKL):c.1534dup (p.Ile512fs)
NM_201548.5(CERKL):c.1539-16_1552inv
NM_201548.5(CERKL):c.1555_1558dup (p.Ser520fs)
NM_201548.5(CERKL):c.182T>A (p.Val61Glu) rs1472885040
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_201548.5(CERKL):c.238+1G>T
NM_201548.5(CERKL):c.239-1G>A rs1559100465
NM_201548.5(CERKL):c.239-2A>C
NM_201548.5(CERKL):c.270del (p.Glu91fs)
NM_201548.5(CERKL):c.2T>C (p.Met1Thr) rs1187991259
NM_201548.5(CERKL):c.304A>T (p.Lys102Ter)
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.323_327del (p.Cys107_Ser108insTer) rs1685567937
NM_201548.5(CERKL):c.336del (p.Arg113fs)
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.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.566del (p.Lys189fs) rs1255407239
NM_201548.5(CERKL):c.568del (p.Val190fs)
NM_201548.5(CERKL):c.613+1G>C
NM_201548.5(CERKL):c.645dup (p.Leu216fs) rs1688653833
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.678-1G>T
NM_201548.5(CERKL):c.6del (p.Trp3fs)
NM_201548.5(CERKL):c.752_755dup (p.Met253fs)
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545
NM_201548.5(CERKL):c.820+2C>G rs1328971667
NM_201548.5(CERKL):c.848_849del (p.Leu283fs) rs2105805625
NM_201548.5(CERKL):c.8G>A (p.Trp3Ter) rs2105569550
NM_201548.5(CERKL):c.93del (p.Leu32fs)

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