ClinVar Miner

List of variants reported as pathogenic for Cernunnos-XLF deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs) rs886037607
NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly) rs118204451
NM_024782.3(NHEJ1):c.177+1_177+3delinsTT rs886037606
NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg) rs118204452
NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter) rs1949865586
NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)
NM_024782.3(NHEJ1):c.530-2A>T rs1064793763
NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter) rs118204453
NM_024782.3(NHEJ1):c.546del (p.Glu182fs)
NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)
NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter) rs1553542017
NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs) rs2106320090
NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)
NM_024782.3(NHEJ1):c.75del (p.Lys26fs)
NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)

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.