ClinVar Miner

List of variants reported as pathogenic for infantile liver failure by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_020117.11(LARS1):c.2504A>G (p.Tyr835Cys)	rs770802595

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