ClinVar Miner

List of variants in gene LIG4 reported as benign for Severe combined immunodeficiency due to DCLRE1C deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_002312.3(LIG4):c.*1035G>A rs10131
NM_002312.3(LIG4):c.*104C>G rs2232644
NM_002312.3(LIG4):c.*1081C>T rs113388531
NM_002312.3(LIG4):c.*129A>G rs3093767
NM_002312.3(LIG4):c.*131A>T rs3093768
NM_002312.3(LIG4):c.*204A>G rs3093769
NM_002312.3(LIG4):c.*54G>A rs2232643
NM_002312.3(LIG4):c.*677A>G rs3093772
NM_002312.3(LIG4):c.*685T>C
NM_002312.3(LIG4):c.*826A>T rs116018061
NM_002312.3(LIG4):c.*983G>A rs75642465
NM_002312.3(LIG4):c.-196G>A rs1805385
NM_002312.3(LIG4):c.-273C>T rs1805387
NM_002312.3(LIG4):c.-7C>T rs4987182
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639

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.