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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001277062.2(MFF):c.630C>A (p.Ala210=)	rs140009845	0.00556
NM_001277062.2(MFF):c.92C>T (p.Pro31Leu)	rs149692814	0.00282
NM_001277062.2(MFF):c.284del (p.Thr95fs)	rs1285225437	0.00003
NM_001277062.2(MFF):c.678A>G (p.Ile226Met)	rs756607883	0.00001
NM_001277062.2(MFF):c.749T>G (p.Ile250Ser)	rs1278600625	0.00001
NM_001277062.2(MFF):c.106dup (p.Leu36fs)	rs886037862
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter)	rs397514615
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr)	rs1414317381
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.403G>A (p.Val135Ile)
NM_001277062.2(MFF):c.739C>T (p.Arg247Ter)	rs753829320
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg)	rs2076297587

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