ClinVar Miner

List of variants in gene CERKL studied for Retinal dystrophy

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) rs61750041 0.15130
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) rs149078111 0.00370
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro) rs746220721 0.00007
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter) rs188492864 0.00006
NM_201548.5(CERKL):c.677+569C>T rs375177042 0.00005
NM_201548.5(CERKL):c.453G>A (p.Trp151Ter) rs746595127 0.00004
NM_201548.5(CERKL):c.770G>A (p.Arg257Gln) rs762961333 0.00003
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.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201548.5(CERKL):c.677+581G>A rs1574454654 0.00001
NM_201548.5(CERKL):c.933C>T (p.Thr311=) rs371048058 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del
NM_201548.5(CERKL):c.1013G>A (p.Arg338Gln)
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer) rs776727320
NM_201548.5(CERKL):c.1143G>A (p.Gln381=) rs1574435800
NM_201548.5(CERKL):c.1269-3C>G rs1553512879
NM_201548.5(CERKL):c.1370A>G (p.Asn457Ser)
NM_201548.5(CERKL):c.1393A>G (p.Thr465Ala)
NM_201548.5(CERKL):c.1404del (p.Glu468_Val469insTer) rs1238123416
NM_201548.5(CERKL):c.1442A>G (p.Asn481Ser)
NM_201548.5(CERKL):c.1449GGA[3] (p.Glu486del)
NM_201548.5(CERKL):c.1466C>A (p.Thr489Asn)
NM_201548.5(CERKL):c.150C>A (p.Gly50=)
NM_201548.5(CERKL):c.252T>A (p.Tyr84Ter) rs1685573282
NM_201548.5(CERKL):c.272A>G (p.Glu91Gly)
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.390A>G (p.Gln130=)
NM_201548.5(CERKL):c.402G>A (p.Lys134=)
NM_201548.5(CERKL):c.419T>C (p.Leu140Pro) rs1481841151
NM_201548.5(CERKL):c.550C>T (p.Gln184Ter) rs1689011389
NM_201548.5(CERKL):c.566_569delinsGTG (p.Lys189fs) rs1689010156
NM_201548.5(CERKL):c.617T>C (p.Met206Thr)
NM_201548.5(CERKL):c.638dup (p.Ser214fs)
NM_201548.5(CERKL):c.639del (p.Ser214fs)
NM_201548.5(CERKL):c.677+1G>A rs1005130980
NM_201548.5(CERKL):c.677+621C>A
NM_201548.5(CERKL):c.820+5G>C rs1469387754
NM_201548.5(CERKL):c.872C>T (p.Thr291Ile) rs1264403798
NM_201548.5(CERKL):c.896-1G>A rs1687854945
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) rs769632183

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