ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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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.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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