ClinVar Miner

List of variants studied for Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) rs200366079 0.00024
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829 0.00014
NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val) rs146955708 0.00006
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660 0.00006
NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys) rs751031882 0.00005
NM_001194998.2(CEP152):c.972+2T>A rs766194658 0.00004
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001194998.2(CEP152):c.1321G>A (p.Gly441Arg)
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer) rs754565020
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) rs1376927760
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455

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.