List of variants reported as pathogenic for infantile liver failure by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)	rs369437593	0.00006
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)	rs368085185	0.00002
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter)	rs376113678	0.00001
NM_015909.4(NBAS):c.1533_1545del (p.Ile512fs)	rs775395168
NM_015909.4(NBAS):c.2950del (p.Ile984fs)	rs776797592
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter)	rs2148225587
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
NM_015909.4(NBAS):c.686dup (p.Ser230fs)	rs759315662
NM_018006.5(TRMU):c.706-1G>A	rs778799889

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.