ClinVar Miner

List of variants in gene CEP152 reported by GeneDx

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Gene type:
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Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.-7-163G>T rs1426200 0.84946
NM_001194998.2(CEP152):c.87+26_87+27insG rs34518970 0.50163
NM_001194998.2(CEP152):c.833-301G>A rs11852603 0.40255
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_001194998.2(CEP152):c.691+273A>G rs34816660 0.37414
NM_001194998.2(CEP152):c.2018+250G>C rs8037963 0.33654
NM_001194998.2(CEP152):c.1909-200A>G rs3213882 0.32548
NM_001194998.2(CEP152):c.2563-206T>G rs12442921 0.31357
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_001194998.2(CEP152):c.1322-112G>A rs2289179 0.23648
NM_001194998.2(CEP152):c.1782+162G>A rs7175027 0.20829
NM_001194998.2(CEP152):c.1322-275G>C rs2289180 0.20809
NM_001194998.2(CEP152):c.1577+97A>G rs72739866 0.16637
NM_001194998.2(CEP152):c.1321+252A>G rs11631496 0.16609
NM_001194998.2(CEP152):c.2281-293A>G rs10519188 0.15243
NM_001194998.2(CEP152):c.-24A>T rs62621137 0.12224
NM_001194998.2(CEP152):c.-25C>A rs185424999 0.12222
NM_001194998.2(CEP152):c.-26A>T rs35871801 0.12222
NM_001194998.2(CEP152):c.-94A>G rs2304546 0.11928
NM_001194998.2(CEP152):c.87+26A>G rs72739872 0.11222
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_001194998.2(CEP152):c.2281-83G>T rs73400358 0.05531
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
NM_001194998.2(CEP152):c.832+240G>A rs34696223 0.04673
NM_001194998.2(CEP152):c.87+115A>T rs9920601 0.04524
NM_001194998.2(CEP152):c.*170T>C rs2169757 0.03605
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557 0.03157
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.191+11G>A rs75503597 0.02449
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_001194998.2(CEP152):c.972+236G>A rs78162340 0.02152
NM_001194998.2(CEP152):c.3634+140A>C rs114032571 0.01830
NM_001194998.2(CEP152):c.1782+212C>G rs7175179 0.01688
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_001194998.2(CEP152):c.1577+116T>C rs80089168 0.01074
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
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.2378G>T (p.Ser793Ile) rs2289178 0.00809
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.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_001194998.2(CEP152):c.1909-8G>C rs116089174 0.00531
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683 0.00477
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.1866G>T (p.Leu622=) rs61737684 0.00460
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436 0.00450
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.2878T>C (p.Trp960Arg) rs201342438 0.00263
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.2262G>A (p.Glu754=) rs149176738 0.00195
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.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194 0.00034
NM_001194998.2(CEP152):c.1565C>G (p.Ser522Cys) rs376452872 0.00032
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro) rs202237336 0.00029
NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766 0.00023
NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) rs199777941 0.00019
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) rs374200686 0.00019
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) rs186930123 0.00011
NM_001194998.2(CEP152):c.3249del (p.Val1084fs) rs754267846 0.00010
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302 0.00010
NM_001194998.2(CEP152):c.1908+1G>T rs748767202 0.00009
NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val) rs146955708 0.00006
NM_001194998.2(CEP152):c.4330C>T (p.Gln1444Ter) rs373725563 0.00005
NM_001194998.2(CEP152):c.2945T>C (p.Phe982Ser) rs1304760236 0.00004
NM_001194998.2(CEP152):c.1116G>C (p.Glu372Asp) rs369383335 0.00003
NM_001194998.2(CEP152):c.4937A>G (p.Tyr1646Cys) rs373148073 0.00003
NM_001194998.2(CEP152):c.1204G>A (p.Val402Met) rs780764155 0.00001
NM_001194998.2(CEP152):c.1509A>G (p.Ile503Met) rs748603785 0.00001
NM_001194998.2(CEP152):c.1818A>T (p.Gln606His) rs745853068 0.00001
NM_001194998.2(CEP152):c.1908+20A>T rs945438483 0.00001
NM_001194998.2(CEP152):c.2038C>T (p.Gln680Ter) rs886039327 0.00001
NM_001194998.2(CEP152):c.2548A>C (p.Asn850His) rs755545730 0.00001
NM_001194998.2(CEP152):c.2593C>A (p.Arg865=) rs765317927 0.00001
NM_001194998.2(CEP152):c.2864A>T (p.Lys955Met) rs756253532 0.00001
NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln) rs1042361244 0.00001
NM_001194998.2(CEP152):c.3154G>A (p.Val1052Ile) rs1460837430 0.00001
NM_001194998.2(CEP152):c.3848G>A (p.Arg1283His) rs755835212 0.00001
NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile) rs749959761 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001194998.2(CEP152):c.-25C>T rs185424999
NM_001194998.2(CEP152):c.1321+132_1321+134del rs538647422
NM_001194998.2(CEP152):c.1321+184TA[10] rs10652796
NM_001194998.2(CEP152):c.1321+184TA[8] rs10652796
NM_001194998.2(CEP152):c.1321+184TA[9] rs10652796
NM_001194998.2(CEP152):c.167G>A (p.Cys56Tyr) rs1322163466
NM_001194998.2(CEP152):c.1753AAG[1] (p.Lys586del) rs752378594
NM_001194998.2(CEP152):c.1782+65dup rs146867646
NM_001194998.2(CEP152):c.1782+76del rs146867646
NM_001194998.2(CEP152):c.2018+246A>G rs115769844
NM_001194998.2(CEP152):c.2050G>A (p.Ala684Thr) rs1064794594
NM_001194998.2(CEP152):c.2258del (p.Lys753fs) rs770971891
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.3028C>T (p.Leu1010Phe) rs2140668909
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu) rs199914670
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) rs1555418825
NM_001194998.2(CEP152):c.3274G>T (p.Gly1092Cys) rs553647106
NM_001194998.2(CEP152):c.3467-58del rs34352957
NM_001194998.2(CEP152):c.3467-59_3467-58del rs34352957
NM_001194998.2(CEP152):c.3731+77dup rs563954737
NM_001194998.2(CEP152):c.4094-77del rs145983063
NM_001194998.2(CEP152):c.4295del (p.Lys1432fs) rs1566971734
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
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.541-131_541-128del rs147688474
NM_001194998.2(CEP152):c.541-137_541-128del rs1392920798
NM_001194998.2(CEP152):c.541-163GT[15] rs3074978
NM_001194998.2(CEP152):c.541-163GT[16] rs3074978
NM_001194998.2(CEP152):c.541-163GT[18] rs3074978
NM_001194998.2(CEP152):c.541-163GT[19] rs3074978
NM_001194998.2(CEP152):c.695_696del (p.Ser232fs) rs1064793906
NM_001194998.2(CEP152):c.87+11_87+12dup rs372967874
NM_001194998.2(CEP152):c.87+11dup rs372967874
NM_001194998.2(CEP152):c.87+124A>C rs531424958
NM_001194998.2(CEP152):c.87+27del rs372967874
NM_001194998.2(CEP152):c.88-11dup rs1555427904
NM_001194998.2(CEP152):c.88-211del rs71120641
NM_001194998.2(CEP152):c.88-223dup rs71120641
NM_001194998.2(CEP152):c.972+3A>G

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