ClinVar Miner

List of variants in gene CEP152 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.*170T>C rs2169757 0.03605
NM_001194998.2(CEP152):c.2695-215C>G rs1478348 0.03113
NM_001194998.2(CEP152):c.2018+333C>A rs16961610 0.02667
NM_001194998.2(CEP152):c.972+236G>A rs78162340 0.02152
NM_001194998.2(CEP152):c.1577+116T>C rs80089168 0.01074
NM_001194998.2(CEP152):c.2562+101T>G rs145137435 0.01023
NM_001194998.2(CEP152):c.541-129A>G rs5812462 0.01023
NM_001194998.2(CEP152):c.692-168G>A rs74813747 0.00861
NM_001194998.2(CEP152):c.1413+244C>G rs16961637 0.00860
NM_001194998.2(CEP152):c.3732-154C>A rs190009025 0.00841
NM_001194998.2(CEP152):c.1783-327T>G rs146202415 0.00693
NM_001194998.2(CEP152):c.2019-282A>C rs138840102 0.00690
NM_001194998.2(CEP152):c.4093+311A>G rs141486683 0.00655
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_001194998.2(CEP152):c.1909-8G>C rs116089174 0.00531
NM_001194998.2(CEP152):c.*194G>A rs144469727 0.00475
NM_001194998.2(CEP152):c.4093+189A>G rs150327437 0.00474
NM_001194998.2(CEP152):c.1321+267A>G rs568381404 0.00472
NM_001194998.2(CEP152):c.972+250A>G rs143175098 0.00469
NM_001194998.2(CEP152):c.4094-50C>T rs190162256 0.00463
NM_001194998.2(CEP152):c.1578-301T>G rs7176224 0.00433
NM_001194998.2(CEP152):c.3836-208C>T rs76019847 0.00383
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_001194998.2(CEP152):c.1909-161C>T rs116686414 0.00376
NM_001194998.2(CEP152):c.1908+223A>G rs78402284 0.00373
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_001194998.2(CEP152):c.2694+318A>G rs79163706 0.00327
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_001194998.2(CEP152):c.832+34A>G rs183368473 0.00292
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=) rs1048042 0.00273
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro) rs77745570 0.00243
NM_001194998.2(CEP152):c.2019-43G>A rs8037266 0.00224
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953 0.00162
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824 0.00120
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146 0.00118
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615 0.00118
NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln) rs201942310 0.00118
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) rs199777941 0.00019
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) rs186930123 0.00011
NM_001194998.2(CEP152):c.1908+20A>T rs945438483 0.00001
NM_001194998.2(CEP152):c.2593C>A (p.Arg865=) rs765317927 0.00001
NM_001194998.2(CEP152):c.1321+132_1321+134del rs538647422
NM_001194998.2(CEP152):c.1782+65dup rs146867646
NM_001194998.2(CEP152):c.1782+76del rs146867646
NM_001194998.2(CEP152):c.2280+260dup rs78892042
NM_001194998.2(CEP152):c.2280+272del rs78892042
NM_001194998.2(CEP152):c.2280+31C>A rs113266652
NM_001194998.2(CEP152):c.2281-218TG[3] rs369737671
NM_001194998.2(CEP152):c.2563-70C>A rs116150006
NM_001194998.2(CEP152):c.3467-59_3467-58del rs34352957
NM_001194998.2(CEP152):c.3731+77dup rs563954737
NM_001194998.2(CEP152):c.540+53G>T rs186463794
NM_001194998.2(CEP152):c.540+74G>A
NM_001194998.2(CEP152):c.541-130TA[4] rs572514146
NM_001194998.2(CEP152):c.541-130TA[6] rs572514146
NM_001194998.2(CEP152):c.541-137_541-128del rs1392920798
NM_001194998.2(CEP152):c.541-163GT[19] rs3074978
NM_001194998.2(CEP152):c.87+124A>C rs531424958
NM_001194998.2(CEP152):c.88-11dup rs1555427904
NM_001194998.2(CEP152):c.88-223dup rs71120641

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