ClinVar Miner

List of variants reported as pathogenic for infantile liver failure by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (7):

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: 2

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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

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