ClinVar Miner

List of variants in gene CEP290 reported as uncertain significance by Dept Of Ophthalmology, Nagoya University

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874 0.00009
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg) rs377142184 0.00007
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met) rs369451049 0.00006
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00006
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.351T>C (p.Ile117=) rs771707256 0.00002
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val) rs564214956 0.00002
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.2267C>T (p.Ser756Leu) rs761111801 0.00001
NM_025114.4(CEP290):c.2323A>T (p.Ser775Cys) rs2038667468 0.00001
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala) rs750018041 0.00001
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala) rs2037141100 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.4324A>G (p.Ile1442Val) rs780996316 0.00001
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn) rs746106679 0.00001
NM_025114.4(CEP290):c.4920C>G (p.Leu1640=) rs1330745435 0.00001
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser) rs1283291449 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.1271A>G (p.Glu424Gly) rs2501093946
NM_025114.4(CEP290):c.14T>G (p.Ile5Arg) rs1434632102
NM_025114.4(CEP290):c.1684G>A (p.Glu562Lys) rs2137867771
NM_025114.4(CEP290):c.2165C>T (p.Ser722Phe) rs2500762225
NM_025114.4(CEP290):c.2241T>C (p.Thr747=) rs2500745328
NM_025114.4(CEP290):c.2311C>T (p.Pro771Ser) rs2500740274
NM_025114.4(CEP290):c.2342A>G (p.Asn781Ser) rs2038665799
NM_025114.4(CEP290):c.2411C>A (p.Ser804Tyr) rs1442460263
NM_025114.4(CEP290):c.2908A>G (p.Asn970Asp) rs2038003729
NM_025114.4(CEP290):c.2948A>G (p.Asp983Gly) rs2037999321
NM_025114.4(CEP290):c.3079G>T (p.Ala1027Ser) rs1168283001
NM_025114.4(CEP290):c.322C>A (p.Arg108=) rs1290241933
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu) rs7307793
NM_025114.4(CEP290):c.372A>G (p.Leu124=) rs2040371763
NM_025114.4(CEP290):c.3850G>A (p.Glu1284Lys) rs2500104737
NM_025114.4(CEP290):c.4054G>C (p.Glu1352Gln) rs2036719437
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4119A>C (p.Lys1373Asn) rs117122459
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.4889T>C (p.Val1630Ala) rs2036314984
NM_025114.4(CEP290):c.4983A>G (p.Lys1661=) rs2036307083
NM_025114.4(CEP290):c.4995T>C (p.Phe1665=) rs772088416
NM_025114.4(CEP290):c.5025C>T (p.Asn1675=) rs2499914001
NM_025114.4(CEP290):c.6583A>C (p.Lys2195Gln) rs2034335758
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp) rs377561473
NM_025114.4(CEP290):c.6774T>G (p.Leu2258=) rs2034234195
NM_025114.4(CEP290):c.6926A>G (p.Lys2309Arg) rs2499469675
NM_025114.4(CEP290):c.6994G>A (p.Glu2332Lys) rs1414041522

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