ClinVar Miner

List of variants studied for Encephalopathy due to defective mitochondrial and peroxisomal fission 2

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Total variants: 11
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NM_001277062.2(MFF):c.106dup (p.Leu36fs) rs886037862
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) rs397514615
NM_001277062.2(MFF):c.284del (p.Thr95fs) rs1285225437
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr) rs1414317381
NM_001277062.2(MFF):c.355C>T (p.Arg119Ter)
NM_001277062.2(MFF):c.375_376del (p.Glu127fs) rs879255690
NM_001277062.2(MFF):c.678A>G (p.Ile226Met)
NM_001277062.2(MFF):c.739C>T (p.Arg247Ter) rs753829320
NM_001277062.2(MFF):c.749T>G (p.Ile250Ser)
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg)

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