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 gnomAD frequency
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_206937.2(LIG4):c.*1035G>A rs10131 0.11700
NM_206937.2(LIG4):c.*677A>G rs3093772 0.09986
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_206937.2(LIG4):c.*1081C>T rs113388531 0.03279
NM_206937.2(LIG4):c.*826A>T rs116018061 0.03278
NM_206937.2(LIG4):c.*685T>C rs116798101 0.03277
NM_206937.2(LIG4):c.*983G>A rs75642465 0.03277
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638 0.03276
NM_206937.2(LIG4):c.*204A>G rs3093769 0.03275
NM_206937.2(LIG4):c.*131A>T rs3093768 0.03272
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03272
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_206937.2(LIG4):c.-101-172C>T rs1805387 0.02719
NM_206937.2(LIG4):c.*129A>G rs3093767 0.02174
NM_206937.2(LIG4):c.*54G>A rs2232643 0.01584
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_206937.2(LIG4):c.*104C>G rs2232644 0.00690
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_206937.2(LIG4):c.-101-95G>A rs1805385 0.00533
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639 0.00524
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641 0.00051

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.