ClinVar Miner

List of variants studied for liver failure by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (11):

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute liver failure
Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Fulminant hepatic failure
Global developmental delay; Recurrent infections; Anemia; Liver failure; Hyperinsulinemic hypoglycemia; Acute kidney injury; Cholestatic liver disease
Infantile liver failure
Infantile liver failure syndrome 1
Infantile liver failure syndrome 2
Infantile liver failure syndrome 3
Nephrolithiasis; Subcutaneous lipoma; Exercise intolerance; Acute liver failure; Abnormal mitochondria in muscle tissue; Moderate sensorineural hearing impairment; Sleep apnea; Chronic fatigue
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome; Infantile liver failure syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)	rs764622793	0.00002
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)	rs1174791046	0.00001

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.