ClinVar Miner

List of variants studied for infantile liver failure by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (7):

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Infantile liver failure
Infantile liver failure syndrome 1
Infantile liver failure syndrome 2
Infantile liver failure syndrome 3
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: 3

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.2092T>C (p.Tyr698His)
NM_015909.4(NBAS):c.5953C>T (p.Gln1985Ter)
NM_020117.11(LARS1):c.3377G>A (p.Arg1126Gln)

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