ClinVar Miner

List of variants reported as pathogenic for infantile liver failure by Laboratory of Medical Genetics, University of Torino

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter)	rs759960319	0.00001
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)	rs776597537
NM_015909.4(NBAS):c.686dup (p.Ser230fs)	rs759315662

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