ClinVar Miner

List of variants in gene MFF studied for Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP
NM_001277061.2(MFF):c.184dup (p.Leu62fs) rs886037862
NM_001277061.2(MFF):c.190C>T (p.Gln64Ter) rs397514615
NM_001277061.2(MFF):c.362del (p.Thr121fs) rs1285225437
NM_001277061.2(MFF):c.415C>A (p.Pro139Thr) rs1414317381
NM_001277061.2(MFF):c.453_454del (p.Glu153fs) rs879255690
NM_001277061.2(MFF):c.892C>T (p.Arg298Ter) rs753829320

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