List of variants in gene NBAS reported as pathogenic for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)	rs368085185	0.00002
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter)	rs376113678	0.00001
NM_015909.4(NBAS):c.1284G>A (p.Trp428Ter)
NM_015909.4(NBAS):c.1533_1545del (p.Ile512fs)	rs775395168
NM_015909.4(NBAS):c.2950del (p.Ile984fs)	rs776797592
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter)	rs2148225587
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
NM_015909.4(NBAS):c.686dup (p.Ser230fs)	rs759315662

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