List of variants reported as pathogenic for Encephalopathy due to defective mitochondrial and peroxisomal fission 2 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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)	rs2075318017
NM_001277062.2(MFF):c.375_376del (p.Glu127fs)	rs879255690
NM_001277062.2(MFF):c.739C>T (p.Arg247Ter)	rs753829320
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg)	rs2076297587

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