List of variants reported as likely pathogenic for DNA ligase IV deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	rs104894419	0.00007
NM_206937.2(LIG4):c.1312T>C (p.Tyr438His)	rs886037777	0.00001
NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln)	rs758694012	0.00001
NM_206937.2(LIG4):c.832C>T (p.Arg278Cys)	rs574912936	0.00001
NM_206937.2(LIG4):c.1103A>T (p.Asp368Val)	rs1220876973
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg)	rs2138974645
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)	rs373938258
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro)	rs1060499662
NM_206937.2(LIG4):c.2401_2410del (p.Tyr801fs)	rs2138967445
NM_206937.2(LIG4):c.68T>C (p.Leu23Ser)
NM_206937.2(LIG4):c.743C>T (p.Pro248Leu)	rs2138978193
NM_206937.2(LIG4):c.832C>A (p.Arg278Ser)
NM_206937.2(LIG4):c.833G>C (p.Arg278Pro)
NM_206937.2(LIG4):c.845A>G (p.His282Arg)
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu)	rs1594462950
NM_206937.2(LIG4):c.879_883del (p.Asn294fs)	rs751070095

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.