ClinVar Miner

List of variants in gene CEP290 reported by Ambry Genetics

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) rs374656545 0.00019
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) rs11831931 0.00011
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val) rs376307540 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly) rs987259388 0.00004
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.6523-6T>C rs794727692 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser) rs761662102 0.00001
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val) rs2038667110 0.00001
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys) rs780990839 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr) rs1319955144 0.00001
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg) rs199790246 0.00001
NM_025114.4(CEP290):c.838C>T (p.His280Tyr) rs575493480 0.00001
NM_025114.4(CEP290):c.1103C>A (p.Thr368Asn)
NM_025114.4(CEP290):c.1134G>A (p.Met378Ile)
NM_025114.4(CEP290):c.1175T>G (p.Leu392Arg) rs794727106
NM_025114.4(CEP290):c.1325T>C (p.Val442Ala)
NM_025114.4(CEP290):c.1331C>T (p.Ala444Val)
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr) rs1035966537
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.2107G>A (p.Ala703Thr)
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2396A>G (p.Lys799Arg)
NM_025114.4(CEP290):c.2542G>A (p.Glu848Lys)
NM_025114.4(CEP290):c.2893G>T (p.Ala965Ser)
NM_025114.4(CEP290):c.3041T>C (p.Leu1014Pro)
NM_025114.4(CEP290):c.3128C>G (p.Ala1043Gly)
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp)
NM_025114.4(CEP290):c.3410G>T (p.Arg1137Leu)
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3608T>C (p.Leu1203Ser)
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr)
NM_025114.4(CEP290):c.373G>T (p.Glu125Ter) rs2040371663
NM_025114.4(CEP290):c.3829G>C (p.Ala1277Pro)
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val)
NM_025114.4(CEP290):c.4205A>G (p.Glu1402Gly)
NM_025114.4(CEP290):c.4247G>A (p.Arg1416His)
NM_025114.4(CEP290):c.4294G>A (p.Ala1432Thr)
NM_025114.4(CEP290):c.4326C>G (p.Ile1442Met)
NM_025114.4(CEP290):c.4330G>A (p.Asp1444Asn)
NM_025114.4(CEP290):c.4739A>G (p.Asp1580Gly)
NM_025114.4(CEP290):c.4864C>T (p.Arg1622Cys)
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro)
NM_025114.4(CEP290):c.5085C>G (p.Asp1695Glu)
NM_025114.4(CEP290):c.5226+6T>G
NM_025114.4(CEP290):c.5410G>C (p.Ala1804Pro)
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.5476C>A (p.Leu1826Met)
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr)
NM_025114.4(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.4(CEP290):c.6022G>A (p.Ala2008Thr)
NM_025114.4(CEP290):c.614G>T (p.Arg205Leu)
NM_025114.4(CEP290):c.6209C>A (p.Ser2070Tyr)
NM_025114.4(CEP290):c.6386A>G (p.Glu2129Gly)
NM_025114.4(CEP290):c.6417A>C (p.Lys2139Asn)
NM_025114.4(CEP290):c.6860C>G (p.Ala2287Gly)
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu) rs780375623
NM_025114.4(CEP290):c.7071A>C (p.Glu2357Asp)
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
NM_025114.4(CEP290):c.853G>A (p.Val285Met)

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