ClinVar Miner

List of variants in gene CEP152 reported as uncertain significance for Seckel syndrome

Included ClinVar conditions (16):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_001194998.2(CEP152):c.*194G>A rs144469727
NM_001194998.2(CEP152):c.*231C>T rs531587783
NM_001194998.2(CEP152):c.*255T>C rs187213125
NM_001194998.2(CEP152):c.*73A>C rs886051259
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.1153G>T (p.Val385Phe) rs886051265
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001194998.2(CEP152):c.1185C>T (p.Cys395=) rs377258492
NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe) rs776999918
NM_001194998.2(CEP152):c.1578-6C>G rs80239443
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr) rs199690309
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738
NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met) rs886051263
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.2901A>G (p.Glu967=) rs886051262
NM_001194998.2(CEP152):c.2928G>A (p.Glu976=) rs771359060
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953
NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=) rs537168507
NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=) rs200018103
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_001194998.2(CEP152):c.35T>C (p.Val12Ala) rs191061766
NM_001194998.2(CEP152):c.3683T>C (p.Met1228Thr) rs886051261
NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu) rs778040674
NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) rs199777941
NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His) rs886051260
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199
NM_001194998.2(CEP152):c.4094-9A>T rs80090788
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) rs186930123
NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=) rs370000548
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683
NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg) rs776286310
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) rs374200686
NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His) rs771595097
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615
NM_001194998.2(CEP152):c.930A>T (p.Ala310=) rs779255588
NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser) rs556609167
NM_014985.3(CEP152):c.-130C>T rs548247909
NM_014985.3(CEP152):c.-164T>C rs886051268

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