ClinVar Miner

List of variants in gene CEP290 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00714
NM_025114.4(CEP290):c.2217+45T>C rs45461003 0.00631
NM_025114.4(CEP290):c.2991+39A>G rs147626659 0.00519
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.7034+40T>A rs184044181 0.00232
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00231
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00134
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_025114.4(CEP290):c.2368-36T>G rs547843877 0.00108
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025114.4(CEP290):c.5013-21A>G rs368215443 0.00065
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr) rs199583200 0.00053
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_025114.4(CEP290):c.6136-19T>G rs377613416 0.00050
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00020
NM_025114.4(CEP290):c.853-9G>A rs974759127 0.00019
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00016
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325 0.00010
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00010
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648 0.00008
NM_025114.4(CEP290):c.3573+3A>G rs199520739 0.00007
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00007
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223 0.00006
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917 0.00006
NM_025114.4(CEP290):c.6358-5C>T rs372986399 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 0.00004
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=) rs779186037 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.4963A>C (p.Arg1655=) rs1161295348 0.00004
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.2367+4T>C rs1413934261 0.00003
NM_025114.4(CEP290):c.3310-48C>A rs764488172 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.5271A>C (p.Ala1757=) rs368906813 0.00003
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805 0.00003
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235 0.00003
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00003
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869 0.00003
NM_025114.4(CEP290):c.105G>A (p.Val35=) rs371969282 0.00002
NM_025114.4(CEP290):c.1122T>C (p.Tyr374=) rs758472041 0.00002
NM_025114.4(CEP290):c.2052+17A>G rs886038691 0.00002
NM_025114.4(CEP290):c.2211T>C (p.Asn737=) rs763182158 0.00002
NM_025114.4(CEP290):c.2424C>T (p.Tyr808=) rs911134690 0.00002
NM_025114.4(CEP290):c.3402T>C (p.Asp1134=) rs976423527 0.00002
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379 0.00002
NM_025114.4(CEP290):c.4123T>C (p.Leu1375=) rs368322148 0.00002
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744 0.00002
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700 0.00002
NM_025114.4(CEP290):c.5379T>C (p.Asp1793=) rs1031513373 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.6069A>G (p.Arg2023=) rs772038500 0.00002
NM_025114.4(CEP290):c.6120A>G (p.Thr2040=) rs766265410 0.00002
NM_025114.4(CEP290):c.6444T>C (p.Asn2148=) rs368101871 0.00002
NM_025114.4(CEP290):c.-38G>C rs886049886 0.00001
NM_025114.4(CEP290):c.1002A>G (p.Leu334=) rs757621266 0.00001
NM_025114.4(CEP290):c.103-17C>T rs976920583 0.00001
NM_025114.4(CEP290):c.1190-8C>T rs764602507 0.00001
NM_025114.4(CEP290):c.1523-4G>A rs746906765 0.00001
NM_025114.4(CEP290):c.1523-7A>G rs1413722193 0.00001
NM_025114.4(CEP290):c.1554T>A (p.Thr518=) rs767529344 0.00001
NM_025114.4(CEP290):c.1680T>C (p.Ala560=) rs777669368 0.00001
NM_025114.4(CEP290):c.1711+8C>T rs765158159 0.00001
NM_025114.4(CEP290):c.1712-6A>G rs1452155200 0.00001
NM_025114.4(CEP290):c.181-9A>G rs745494615 0.00001
NM_025114.4(CEP290):c.2016A>G (p.Thr672=) rs886038690 0.00001
NM_025114.4(CEP290):c.2052+27T>C rs748630707 0.00001
NM_025114.4(CEP290):c.2053-5G>T rs764694042 0.00001
NM_025114.4(CEP290):c.2218-10T>C rs1433595237 0.00001
NM_025114.4(CEP290):c.2586T>C (p.Asn862=) rs886038695 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.2587-9T>C rs766982108 0.00001
NM_025114.4(CEP290):c.2712A>G (p.Val904=) rs1371763035 0.00001
NM_025114.4(CEP290):c.2817+4C>T rs768895932 0.00001
NM_025114.4(CEP290):c.291A>G (p.Glu97=) rs757402765 0.00001
NM_025114.4(CEP290):c.2929A>C (p.Arg977=) rs765840717 0.00001
NM_025114.4(CEP290):c.3234A>G (p.Lys1078=) rs376027433 0.00001
NM_025114.4(CEP290):c.3378G>A (p.Val1126=) rs546939043 0.00001
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146 0.00001
NM_025114.4(CEP290):c.3461+8C>T rs1370236429 0.00001
NM_025114.4(CEP290):c.3550A>C (p.Arg1184=) rs1275942966 0.00001
NM_025114.4(CEP290):c.3561G>A (p.Leu1187=) rs771857714 0.00001
NM_025114.4(CEP290):c.3621T>C (p.Asn1207=) rs761412978 0.00001
NM_025114.4(CEP290):c.4303-7T>C rs368961895 0.00001
NM_025114.4(CEP290):c.4365C>T (p.Ile1455=) rs552731286 0.00001
NM_025114.4(CEP290):c.4518G>A (p.Arg1506=) rs748296011 0.00001
NM_025114.4(CEP290):c.4680A>G (p.Gln1560=) rs2036436821 0.00001
NM_025114.4(CEP290):c.4813-4A>G rs2036324053 0.00001
NM_025114.4(CEP290):c.4839A>G (p.Pro1613=) rs1273165449 0.00001
NM_025114.4(CEP290):c.496-6C>T rs776649058 0.00001
NM_025114.4(CEP290):c.5337C>T (p.Ile1779=) rs1367796637 0.00001
NM_025114.4(CEP290):c.5364+3G>A rs747450920 0.00001
NM_025114.4(CEP290):c.5619A>G (p.Leu1873=) rs2035852547 0.00001
NM_025114.4(CEP290):c.5640A>G (p.Lys1880=) rs1225010541 0.00001
NM_025114.4(CEP290):c.5670A>C (p.Gly1890=) rs545964640 0.00001
NM_025114.4(CEP290):c.5919G>A (p.Gln1973=) rs1231554118 0.00001
NM_025114.4(CEP290):c.6003G>A (p.Leu2001=) rs2035355059 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6162T>C (p.His2054=) rs867670449 0.00001
NM_025114.4(CEP290):c.6645+7C>T rs762527255 0.00001
NM_025114.4(CEP290):c.669+8G>T rs768408897 0.00001
NM_025114.4(CEP290):c.6948C>T (p.Asp2316=) rs768771609 0.00001
NM_025114.4(CEP290):c.7104A>G (p.Gln2368=) rs1176691356 0.00001
NM_025114.4(CEP290):c.996T>C (p.His332=) rs746022535 0.00001
NM_025114.4(CEP290):c.-34G>A
NM_025114.4(CEP290):c.-9G>A
NM_025114.4(CEP290):c.103-23C>T
NM_025114.4(CEP290):c.103-30_103-24del rs2501854888
NM_025114.4(CEP290):c.1038T>C (p.Asp346=)
NM_025114.4(CEP290):c.1078C>A (p.Arg360=) rs776645403
NM_025114.4(CEP290):c.1523-404T>G
NM_025114.4(CEP290):c.1523-411G>A
NM_025114.4(CEP290):c.1712-4A>G rs1207619750
NM_025114.4(CEP290):c.1824+15dup rs746448124
NM_025114.4(CEP290):c.1830A>G (p.Glu610=) rs2038962868
NM_025114.4(CEP290):c.1839A>G (p.Ser613=)
NM_025114.4(CEP290):c.1910-10_1910-9del rs773520477
NM_025114.4(CEP290):c.1910-8A>G
NM_025114.4(CEP290):c.1998T>C (p.Asp666=) rs376320828
NM_025114.4(CEP290):c.2028C>T (p.Ile676=)
NM_025114.4(CEP290):c.2031T>C (p.Pro677=)
NM_025114.4(CEP290):c.2034C>T (p.Ser678=)
NM_025114.4(CEP290):c.2052+30del rs11358611
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2248T>C (p.Leu750=)
NM_025114.4(CEP290):c.2265A>T (p.Gly755=)
NM_025114.4(CEP290):c.2454A>G (p.Gln818=)
NM_025114.4(CEP290):c.2483+7G>T rs886038692
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-8G>T rs1436691712
NM_025114.4(CEP290):c.2490G>A (p.Lys830=) rs1487806486
NM_025114.4(CEP290):c.250+10T>C rs1317384355
NM_025114.4(CEP290):c.250+28G>C rs886038693
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.251-4dup rs759170743
NM_025114.4(CEP290):c.2673G>A (p.Val891=) rs200156425
NM_025114.4(CEP290):c.2811A>G (p.Arg937=)
NM_025114.4(CEP290):c.298-10T>C rs2040377052
NM_025114.4(CEP290):c.2991+1660T>C
NM_025114.4(CEP290):c.3250C>A (p.Arg1084=) rs372918770
NM_025114.4(CEP290):c.3516A>G (p.Gln1172=)
NM_025114.4(CEP290):c.3573+7G>A
NM_025114.4(CEP290):c.3573+7G>T rs2137301511
NM_025114.4(CEP290):c.3705C>T (p.Asn1235=)
NM_025114.4(CEP290):c.3915A>G (p.Lys1305=) rs2500101041
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=) rs1361449401
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4194+6A>G
NM_025114.4(CEP290):c.4194+8T>G rs1203422704
NM_025114.4(CEP290):c.4266C>T (p.Asp1422=)
NM_025114.4(CEP290):c.4302+15T>C rs886038696
NM_025114.4(CEP290):c.4380T>C (p.Ile1460=) rs1014763442
NM_025114.4(CEP290):c.442-12_442-3del
NM_025114.4(CEP290):c.4513C>T (p.Leu1505=) rs1481340734
NM_025114.4(CEP290):c.4566A>C (p.Leu1522=) rs763991371
NM_025114.4(CEP290):c.4653A>G (p.Gln1551=) rs2137183063
NM_025114.4(CEP290):c.4677T>C (p.Tyr1559=) rs2137182509
NM_025114.4(CEP290):c.4704+24T>G
NM_025114.4(CEP290):c.516+6G>A
NM_025114.4(CEP290):c.516+8T>G
NM_025114.4(CEP290):c.5187G>T (p.Arg1729=)
NM_025114.4(CEP290):c.5226+6T>G rs772322005
NM_025114.4(CEP290):c.5226+6_5226+7insGG rs2499906848
NM_025114.4(CEP290):c.5226+7_5226+8insC rs2036089498
NM_025114.4(CEP290):c.5358G>A (p.Glu1786=)
NM_025114.4(CEP290):c.5587-9A>C rs2035856064
NM_025114.4(CEP290):c.5625A>G (p.Glu1875=) rs754796813
NM_025114.4(CEP290):c.5661A>G (p.Gln1887=)
NM_025114.4(CEP290):c.5709+4T>G
NM_025114.4(CEP290):c.5997T>C (p.Asp1999=) rs1181495089
NM_025114.4(CEP290):c.6012-5C>A rs2499678725
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=) rs2035114777
NM_025114.4(CEP290):c.6141A>G (p.Ser2047=) rs779553989
NM_025114.4(CEP290):c.6358-17_6358-10del rs2034440499
NM_025114.4(CEP290):c.6567C>T (p.Ser2189=)
NM_025114.4(CEP290):c.6645A>G (p.Lys2215=)
NM_025114.4(CEP290):c.672T>G (p.Thr224=)
NM_025114.4(CEP290):c.6819-34G>T rs750838874
NM_025114.4(CEP290):c.6819-3T>C
NM_025114.4(CEP290):c.6903A>G (p.Lys2301=)
NM_025114.4(CEP290):c.7014A>G (p.Lys2338=)
NM_025114.4(CEP290):c.7119C>T (p.Ser2373=) rs2136623871
NM_025114.4(CEP290):c.7143A>G (p.Leu2381=) rs766938807
NM_025114.4(CEP290):c.7209+7T>C rs745813087
NM_025114.4(CEP290):c.7209+7_7209+10del rs779880515
NM_025114.4(CEP290):c.948T>C (p.Ile316=) rs767967987

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