ClinVar Miner

List of variants reported as pathogenic for Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001277062.2(MFF):c.106dup (p.Leu36fs) rs886037862
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) rs397514615
NM_001277062.2(MFF):c.355C>T (p.Arg119Ter)
NM_001277062.2(MFF):c.375_376del (p.Glu127fs) rs879255690
NM_001277062.2(MFF):c.739C>T (p.Arg247Ter) rs753829320

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