ClinVar Miner

List of variants in gene CEP152 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436 0.00450
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001194998.2(CEP152):c.1155del (p.Thr386fs) rs587783414 0.00005
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001194998.1(CEP152):c.[3676_3678delAAC;3149T>C]
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer) rs754565020
NM_001194998.2(CEP152):c.261+1G>C rs966888627
NM_001194998.2(CEP152):c.2679del (p.Ser894fs) rs587783421
NM_001194998.2(CEP152):c.2694+1G>T rs1349385657
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) rs869312853
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs) rs587783423
NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) rs1342429887
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) rs1555418825
NM_001194998.2(CEP152):c.3948_3949insGGCGCAAATATTATTTG (p.Ile1317delinsGlyAlaAsnIleIleTer)
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) rs1376927760
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001194998.2(CEP152):c.467dup (p.Gln157fs) rs1208144689
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)

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.