ClinVar Miner

List of variants in gene CEP152 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
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.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala) rs200883218 0.00028
NM_001194998.2(CEP152):c.186C>T (p.Asp62=) rs548567364 0.00016
NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu) rs199917740 0.00016
NM_001194998.2(CEP152):c.2265A>G (p.Gln755=) rs770230603 0.00014
NM_001194998.2(CEP152):c.4320T>C (p.His1440=) rs372379014 0.00014
NM_001194998.2(CEP152):c.3852T>C (p.Tyr1284=) rs199898600 0.00009
NM_001194998.2(CEP152):c.2154G>A (p.Glu718=) rs575535578 0.00006
NM_001194998.2(CEP152):c.2867C>T (p.Ala956Val) rs547292452 0.00006
NM_001194998.2(CEP152):c.3867G>A (p.Lys1289=) rs370253625 0.00006
NM_001194998.2(CEP152):c.1061G>A (p.Arg354Gln) rs375806576 0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001194998.2(CEP152):c.245A>T (p.Lys82Ile) rs1178507750 0.00001
NC_000015.10:g.48717160G>T
NM_001194998.2(CEP152):c.1190G>A (p.Arg397His)
NM_001194998.2(CEP152):c.171C>T (p.Ser57=)
NM_001194998.2(CEP152):c.1809A>G (p.Pro603=)
NM_001194998.2(CEP152):c.1995T>C (p.His665=)
NM_001194998.2(CEP152):c.2967A>G (p.Lys989=)
NM_001194998.2(CEP152):c.3918A>G (p.Glu1306=)
NM_001194998.2(CEP152):c.4168T>C (p.Cys1390Arg)
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001194998.2(CEP152):c.4500A>G (p.Gly1500=)
NM_001194998.2(CEP152):c.4563T>C (p.His1521=)
NM_001194998.2(CEP152):c.5079G>A (p.Pro1693=) rs577873248
NM_001194998.2(CEP152):c.654C>T (p.Phe218=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.