ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NC_000012.12:g.88077266C>G
NC_000012.12:g.88082889T>C
NC_000012.12:g.88084865A>G
NC_000012.12:g.88085964_88085967del
NC_000012.12:g.88086839G>A
NC_000012.12:g.88089085T>C
NC_000012.12:g.88117018A>G
NC_000012.12:g.88118475G>A
NC_000012.12:g.88129888_88129889del
NC_000012.12:g.88139284T>C
NM_025114.3(CEP290):c.-28+15G>A rs1555230267
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.3(CEP290):c.1360-4T>G rs200328638
NM_025114.3(CEP290):c.1455A>G (p.Glu485=) rs755893750
NM_025114.3(CEP290):c.1522+6C>T rs148446546
NM_025114.3(CEP290):c.1667T>A (p.Ile556Asn) rs727503854
NM_025114.3(CEP290):c.1680T>C (p.Ala560=) rs777669368
NM_025114.3(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.3(CEP290):c.1825-8T>G rs769405843
NM_025114.3(CEP290):c.2183A>G (p.Asn728Ser) rs752513342
NM_025114.3(CEP290):c.2217+6A>G rs139027723
NM_025114.3(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.3(CEP290):c.251-11T>A rs200666995
NM_025114.3(CEP290):c.2595C>T (p.Leu865=) rs114632733
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.297+36A>G rs45468703
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.3273G>A (p.Glu1091=) rs771584252
NM_025114.3(CEP290):c.3310-16dup rs1555211687
NM_025114.3(CEP290):c.3408A>G (p.Gln1136=) rs11836796
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4441C>T (p.Leu1481=) rs1220385672
NM_025114.3(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.3(CEP290):c.4705-18C>T rs199751805
NM_025114.3(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.3(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.6092C>A (p.Ala2031Asp) rs1057522651
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.6132T>G (p.Pro2044=) rs765002773
NM_025114.3(CEP290):c.6136-19T>G rs377613416
NM_025114.3(CEP290):c.6145A>G (p.Ile2049Val) rs750355861
NM_025114.3(CEP290):c.6270+18delT rs371141771
NM_025114.3(CEP290):c.6358-4G>A rs369154492
NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.3(CEP290):c.6882T>C (p.Thr2294=) rs759290213
NM_025114.3(CEP290):c.6960+10G>A rs75011402
NM_025114.3(CEP290):c.7004A>G (p.Gln2335Arg) rs1424407266
NM_025114.3(CEP290):c.7034+10G>A rs1057522783

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