ClinVar Miner

List of variants reported as pathogenic for Seckel syndrome by OMIM

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) rs141488085 0.00034
NM_020921.4(NIN):c.3665A>G (p.Gln1222Arg) rs187464517 0.00011
NM_001184.4(ATR):c.6897+464C>G rs587777852 0.00010
NM_005879.3(TRAIP):c.553C>T (p.Arg185Ter) rs767664526 0.00009
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr) rs387907327 0.00001
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_001184.4(ATR):c.2022A>G (p.Gly674=) rs587776690
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) rs587777851
NM_001194998.2(CEP152):c.261+1G>C rs966888627
NM_001194998.2(CEP152):c.2694+1G>T rs1349385657
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001353108.3(CEP63):c.129G>A (p.Trp43Ter) rs1164567042
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_002894.3(RBBP8):c.2287+53T>G rs587776883
NM_005879.3(TRAIP):c.52C>T (p.Arg18Cys) rs864622784
NM_014264.5(PLK4):c.2811-5C>G rs724159995
NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_173685.4(NSMCE2):c.346del (p.Ser116fs) rs757613817
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs) rs773917653

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.