ClinVar Miner

List of variants in gene CEP152 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
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.691+9C>T rs77732888 0.07084
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
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.191+11G>A rs75503597 0.02449
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
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.4914A>G (p.Pro1638=) rs150910683 0.00477
NM_001194998.2(CEP152):c.*194G>A rs144469727 0.00475
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=) rs61737684 0.00460
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
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.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.*51G>A rs531632293 0.00138
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.*5G>A rs74012133 0.00096
NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) rs199690309 0.00094
NM_014985.3(CEP152):c.-130C>T rs548247909 0.00092
NM_001194998.2(CEP152):c.832+12G>A rs111917814 0.00081
NM_001194998.2(CEP152):c.3355G>A (p.Ala1119Thr) rs61745204 0.00060
NM_001194998.2(CEP152):c.996T>C (p.Thr332=) rs199873069 0.00049
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001194998.2(CEP152):c.1565C>G (p.Ser522Cys) rs376452872 0.00036
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.4738A>G (p.Thr1580Ala) rs200883218 0.00028
NM_001194998.2(CEP152):c.*7T>C rs189659093 0.00025
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) rs200366079 0.00024
NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766 0.00023
NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=) rs200018103 0.00019
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.2018+9T>C rs587783417 0.00017
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641 0.00016
NM_001194998.2(CEP152):c.2826C>T (p.Asn942=) rs200733310 0.00016
NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu) rs199917740 0.00016
NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn) rs200227733 0.00014
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001194998.2(CEP152):c.4320T>C (p.His1440=) rs372379014 0.00014
NM_001194998.2(CEP152):c.3085A>G (p.Met1029Val) rs201172776 0.00013
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.*255T>C rs187213125 0.00009
NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=) rs370000548 0.00008
NM_001194998.2(CEP152):c.1578-6C>G rs80239443 0.00006
NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val) rs146955708 0.00006
NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=) rs138151279 0.00006
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660 0.00006
NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala) rs773013405 0.00006
NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=) rs182367234 0.00006
NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His) rs771595097 0.00006
NM_001194998.2(CEP152):c.1155del (p.Thr386fs) rs587783414 0.00005
NM_001194998.2(CEP152):c.2438T>C (p.Ile813Thr) rs188605689 0.00005
NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys) rs751031882 0.00005
NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln) rs374376744 0.00004
NM_001194998.2(CEP152):c.2068C>T (p.Arg690Cys) rs587783419 0.00004
NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) rs556609167 0.00004
NM_001194998.2(CEP152):c.972+2T>A rs766194658 0.00004
NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe) rs776999918 0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001194998.2(CEP152):c.3990-13G>T rs587783424 0.00003
NM_001194998.2(CEP152):c.4525A>G (p.Arg1509Gly) rs587783425 0.00003
NM_001194998.2(CEP152):c.4900C>T (p.Arg1634Cys) rs587783427 0.00003
NM_001194998.2(CEP152):c.930A>T (p.Ala310=) rs779255588 0.00003
NM_001194998.2(CEP152):c.1185C>T (p.Cys395=) rs377258492 0.00002
NM_001194998.2(CEP152):c.2148-17G>A rs751691427 0.00002
NM_001194998.2(CEP152):c.438T>A (p.Leu146=) rs369129204 0.00002
NM_001194998.2(CEP152):c.*33A>G rs766414465 0.00001
NM_001194998.2(CEP152):c.*73A>C rs886051259 0.00001
NM_001194998.2(CEP152):c.1100C>A (p.Thr367Lys) rs372764060 0.00001
NM_001194998.2(CEP152):c.1650A>G (p.Val550=) rs370925576 0.00001
NM_001194998.2(CEP152):c.172G>A (p.Glu58Lys) rs755782063 0.00001
NM_001194998.2(CEP152):c.1818A>T (p.Gln606His) rs745853068 0.00001
NM_001194998.2(CEP152):c.2018+10A>G rs374053407 0.00001
NM_001194998.2(CEP152):c.2019G>A (p.Arg673=) rs587783418 0.00001
NM_001194998.2(CEP152):c.2362A>G (p.Thr788Ala) rs587783420 0.00001
NM_001194998.2(CEP152):c.2827G>A (p.Glu943Lys) rs552367317 0.00001
NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp) rs145813772 0.00001
NM_001194998.2(CEP152):c.2928G>A (p.Glu976=) rs771359060 0.00001
NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln) rs1042361244 0.00001
NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) rs537168507 0.00001
NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu) rs778040674 0.00001
NM_001194998.2(CEP152):c.3781G>A (p.Gly1261Arg) rs369980055 0.00001
NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His) rs750366915 0.00001
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn) rs760130069 0.00001
NM_001194998.2(CEP152):c.4242G>A (p.Arg1414=) rs1892781110 0.00001
NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg) rs776286310 0.00001
NM_001194998.2(CEP152):c.5107G>T (p.Asp1703Tyr) rs74746669 0.00001
NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile) rs749959761 0.00001
NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn) rs1897106202 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001194998.2(CEP152):c.863G>A (p.Arg288Gln) rs766223757 0.00001
NM_014985.3(CEP152):c.-164T>C rs886051268 0.00001
NM_001194998.1(CEP152):c.[3676_3678delAAC;3149T>C]
NM_001194998.2(CEP152):c.-105G>A rs886051267
NM_001194998.2(CEP152):c.-10C>G rs886051266
NM_001194998.2(CEP152):c.-77G>C rs141463032
NM_001194998.2(CEP152):c.1111G>A (p.Glu371Lys) rs538717531
NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe) rs886051265
NM_001194998.2(CEP152):c.1321G>A (p.Gly441Arg)
NM_001194998.2(CEP152):c.1329A>G (p.Val443=) rs587783415
NM_001194998.2(CEP152):c.133G>C (p.Asp45His) rs200227733
NM_001194998.2(CEP152):c.1346T>C (p.Leu449Pro)
NM_001194998.2(CEP152):c.1516A>G (p.Thr506Ala) rs587783416
NM_001194998.2(CEP152):c.1768A>G (p.Ser590Gly) rs75994436
NM_001194998.2(CEP152):c.1769G>A (p.Ser590Asn) rs76252090
NM_001194998.2(CEP152):c.192A>C (p.Gln64His) rs1340289334
NM_001194998.2(CEP152):c.2002C>T (p.Gln668Ter)
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer) rs754565020
NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met) rs886051263
NM_001194998.2(CEP152):c.2647G>A (p.Glu883Lys) rs1894576215
NM_001194998.2(CEP152):c.2679del (p.Ser894fs) rs587783421
NM_001194998.2(CEP152):c.2901A>G (p.Glu967=) rs886051262
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
NM_001194998.2(CEP152):c.3014A>T (p.Lys1005Ile) rs587783422
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) rs869312853
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs) rs587783423
NM_001194998.2(CEP152):c.3071G>A (p.Arg1024His) rs199914670
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) rs1555418825
NM_001194998.2(CEP152):c.3346-5T>C
NM_001194998.2(CEP152):c.3880G>A (p.Glu1294Lys) rs12441978
NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His) rs886051260
NM_001194998.2(CEP152):c.3948_3949insGGCGCAAATATTATTTG (p.Ile1317delinsGlyAlaAsnIleIleTer)
NM_001194998.2(CEP152):c.3989+12C>T rs59594811
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) rs1376927760
NM_001194998.2(CEP152):c.419del (p.Gln140fs)
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455
NM_001194998.2(CEP152):c.4625T>A (p.Met1542Lys) rs587783426
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met) rs909160279
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)
NM_001194998.2(CEP152):c.540+1G>A rs1263911484
NM_001194998.2(CEP152):c.780del (p.Asn260fs) rs1567024512
NM_001194998.2(CEP152):c.833-1G>C
NM_001194998.2(CEP152):c.87G>A (p.Glu29=) rs1897931321
NM_001194998.2(CEP152):c.981G>A (p.Lys327=) rs17339589

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