ClinVar Miner

List of variants in gene CEP290 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.5012+142A>G rs78015808 0.02918
NM_025114.4(CEP290):c.297+36A>G rs45468703 0.02898
NM_025114.4(CEP290):c.670-116A>G rs77623866 0.02275
NM_025114.4(CEP290):c.6270+248T>C rs117508700 0.02206
NM_025114.4(CEP290):c.6136-254G>C rs80192319 0.01609
NM_025114.4(CEP290):c.181-249G>A rs116692715 0.01505
NM_025114.4(CEP290):c.251-93A>G rs111437173 0.01295
NM_025114.4(CEP290):c.2817+48A>G rs76460170 0.01228
NM_025114.4(CEP290):c.298-301C>T rs80213495 0.01225
NM_025114.4(CEP290):c.2991+208A>G rs114745585 0.01111
NM_025114.4(CEP290):c.4437+324T>G rs115578573 0.00920
NM_025114.4(CEP290):c.181-288G>A rs141907559 0.00896
NM_025114.4(CEP290):c.4195-340G>A rs115471416 0.00825
NM_025114.4(CEP290):c.7034+275G>A rs74338819 0.00821
NM_025114.4(CEP290):c.5710-159C>T rs115166743 0.00820
NM_025114.4(CEP290):c.6358-291C>A rs114526714 0.00819
NM_025114.4(CEP290):c.7130-73G>A rs114725040 0.00819
NM_025114.4(CEP290):c.1909+179G>C rs75511160 0.00817
NM_025114.4(CEP290):c.3462-215A>G rs77508014 0.00817
NM_025114.4(CEP290):c.6011+160_6011+161insAT rs145898720 0.00817
NM_025114.4(CEP290):c.2367+63G>A rs75731877 0.00816
NM_025114.4(CEP290):c.442-250T>C rs143450226 0.00816
NM_025114.4(CEP290):c.6645+211C>T rs142591645 0.00815
NM_025114.4(CEP290):c.4195-341C>T rs149499240 0.00735
NM_025114.4(CEP290):c.6136-109C>T rs76564263 0.00681
NM_025114.4(CEP290):c.4438-253C>T rs75939111 0.00680
NM_025114.4(CEP290):c.2217+45T>C rs45461003 0.00636
NM_025114.4(CEP290):c.853-197C>G rs147937851 0.00584
NM_025114.4(CEP290):c.1824+72C>T rs565542317 0.00565
NM_025114.4(CEP290):c.853-276A>G rs12298094 0.00527
NM_025114.4(CEP290):c.2991+39A>G rs147626659 0.00519
NM_025114.4(CEP290):c.1523-162G>A rs138019050 0.00479
NM_025114.4(CEP290):c.5226+231C>T rs146237577 0.00479
NM_025114.4(CEP290):c.6012-98C>T rs141714178 0.00466
NM_025114.4(CEP290):c.7129+157T>C rs140267645 0.00462
NM_025114.4(CEP290):c.180+181A>G rs115165018 0.00460
NM_025114.4(CEP290):c.3573+227C>T rs148047873 0.00432
NM_025114.4(CEP290):c.1825-165G>A rs115517765 0.00408
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.1711+251T>G rs116932106 0.00378
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025114.4(CEP290):c.6136-123G>A rs144023799 0.00345
NM_025114.4(CEP290):c.7129+105A>G rs114920093 0.00339
NM_025114.4(CEP290):c.1066-111C>T rs141158869 0.00335
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_025114.4(CEP290):c.496-118A>C rs114866189 0.00300
NM_025114.4(CEP290):c.496-195A>G rs76233478 0.00298
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117 0.00196
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_025114.4(CEP290):c.3573+215G>A rs374887934 0.00153
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00080
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
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.2595C>T (p.Leu865=) rs114632733 0.00046
NM_025114.4(CEP290):c.1360-4T>G rs200328638 0.00040
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=) rs11836796 0.00021
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
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.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.1825-8T>G rs769405843 0.00009
NM_025114.4(CEP290):c.-41C>T rs759820573 0.00006
NM_025114.4(CEP290):c.2616G>A (p.Ser872=) rs776360559 0.00006
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025114.4(CEP290):c.2217+6A>G rs139027723 0.00004
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252 0.00004
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His) rs143152287 0.00004
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) rs186330724 0.00004
NM_025114.4(CEP290):c.7034+10G>A rs1057522783 0.00003
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750 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.1824+15T>C rs999848467 0.00001
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser) rs752513342 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720 0.00001
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu) rs377156725 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6145A>G (p.Ile2049Val) rs750355861 0.00001
NM_025114.4(CEP290):c.6882T>C (p.Thr2294=) rs759290213 0.00001
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266 0.00001
NM_025114.4(CEP290):c.-28+15G>A rs1555230267
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.4(CEP290):c.1360-250_1360-249del rs536091919
NM_025114.4(CEP290):c.1522+58del rs202232715
NM_025114.4(CEP290):c.1824+39dup rs890305929
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2484-151A>G
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-114_251-96del rs552449427
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.2991+1356_2991+1357del rs762783922
NM_025114.4(CEP290):c.2991+1357del rs762783922
NM_025114.4(CEP290):c.2992-322G>A rs116110864
NM_025114.4(CEP290):c.3310-21dup rs1555211687
NM_025114.4(CEP290):c.3574-257dup rs1185071952
NM_025114.4(CEP290):c.39T>G (p.Val13=) rs2040642206
NM_025114.4(CEP290):c.4195-215_4195-214insGATGGATGGATGGATA rs770390958
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4437+72_4437+75del rs199937112
NM_025114.4(CEP290):c.517-55G>A rs7309960
NM_025114.4(CEP290):c.5227-115_5227-113del rs150619947
NM_025114.4(CEP290):c.6092C>A (p.Ala2031Asp) rs1057522651
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.670-13_670-12del rs941686794

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