ClinVar Miner

List of variants in gene CEP152 studied for Seckel syndrome

Included ClinVar conditions (16):
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Gene type:
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Total variants: 69
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HGVS dbSNP
NM_001194998.1(CEP152):c.261+1G>C rs966888627
NM_001194998.1(CEP152):c.2694+1G>T rs1349385657
NM_001194998.1(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_014985.3(CEP152):c.*170T>C rs2169757
NM_014985.3(CEP152):c.*194G>A rs144469727
NM_014985.3(CEP152):c.*231C>T rs531587783
NM_014985.3(CEP152):c.*255T>C rs187213125
NM_014985.3(CEP152):c.*73A>C rs886051259
NM_014985.3(CEP152):c.-105G>A rs886051267
NM_014985.3(CEP152):c.-10C>G rs886051266
NM_014985.3(CEP152):c.-130C>T rs548247909
NM_014985.3(CEP152):c.-164T>C rs886051268
NM_014985.3(CEP152):c.-77G>C rs141463032
NM_014985.3(CEP152):c.-94A>G rs2304546
NM_014985.3(CEP152):c.1153G>T (p.Val385Phe) rs886051265
NM_014985.3(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_014985.3(CEP152):c.1185C>T (p.Cys395=) rs377258492
NM_014985.3(CEP152):c.1258A>T (p.Ile420Phe) rs776999918
NM_014985.3(CEP152):c.1577+6G>A rs78525896
NM_014985.3(CEP152):c.1578-6C>G rs80239443
NM_014985.3(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_014985.3(CEP152):c.191+11G>A rs75503597
NM_014985.3(CEP152):c.2000A>G (p.Lys667Arg) rs200879436
NM_014985.3(CEP152):c.2019-13G>A rs9302144
NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_014985.3(CEP152):c.2041C>T (p.His681Tyr) rs199690309
NM_014985.3(CEP152):c.2262G>A (p.Glu754=) rs149176738
NM_014985.3(CEP152):c.2378G>T (p.Ser793Ile) rs2289178
NM_014985.3(CEP152):c.2523T>G (p.Ile841Met) rs886051263
NM_014985.3(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_014985.3(CEP152):c.2740C>G (p.Leu914Val) rs16961560
NM_014985.3(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_014985.3(CEP152):c.2804A>G (p.Gln935Arg) rs74245641
NM_014985.3(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_014985.3(CEP152):c.2901A>G (p.Glu967=) rs886051262
NM_014985.3(CEP152):c.2928G>A (p.Glu976=) rs771359060
NM_014985.3(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_014985.3(CEP152):c.3313C>G (p.Leu1105Val) rs74553953
NM_014985.3(CEP152):c.3317T>C (p.Val1106Ala) rs16961557
NM_014985.3(CEP152):c.3324C>T (p.Asn1108=) rs537168507
NM_014985.3(CEP152):c.3378C>T (p.Ala1126=) rs200018103
NM_014985.3(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660
NM_014985.3(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_014985.3(CEP152):c.3466+8G>C rs2306187
NM_014985.3(CEP152):c.3515T>C (p.Met1172Thr) rs886051261
NM_014985.3(CEP152):c.35T>C (p.Val12Ala) rs191061766
NM_014985.3(CEP152):c.3611G>A (p.Gly1204Glu) rs778040674
NM_014985.3(CEP152):c.3612G>C (p.Gly1204=) rs199777941
NM_014985.3(CEP152):c.3743G>A (p.Arg1248His) rs886051260
NM_014985.3(CEP152):c.3904C>G (p.Gln1302Glu) rs149478199
NM_014985.3(CEP152):c.3926-9A>T rs80090788
NM_014985.3(CEP152):c.4007T>C (p.Ile1336Thr) rs186930123
NM_014985.3(CEP152):c.4131T>C (p.His1377=) rs114085678
NM_014985.3(CEP152):c.4210_4211delGT (p.Val1404Phefs) rs141600901
NM_014985.3(CEP152):c.4257G>A (p.Leu1419=) rs370000548
NM_014985.3(CEP152):c.4689T>C (p.Asp1563=) rs74986073
NM_014985.3(CEP152):c.4746A>G (p.Pro1582=) rs150910683
NM_014985.3(CEP152):c.4817A>G (p.His1606Arg) rs776286310
NM_014985.3(CEP152):c.4840G>C (p.Asp1614His) rs771595097
NM_014985.3(CEP152):c.4910C>T (p.Pro1637Leu) rs368764302
NM_014985.3(CEP152):c.4T>A (p.Ser2Thr) rs374200686
NM_014985.3(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_014985.3(CEP152):c.691+9C>T rs77732888
NM_014985.3(CEP152):c.767T>C (p.Ile256Thr) rs201217824
NM_014985.3(CEP152):c.794A>C (p.Gln265Pro) rs267606717
NM_014985.3(CEP152):c.833-4G>A rs58156069
NM_014985.3(CEP152):c.925A>C (p.Lys309Gln) rs199862615
NM_014985.3(CEP152):c.930A>T (p.Ala310=) rs779255588
NM_014985.3(CEP152):c.962A>G (p.Asn321Ser) rs556609167

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