List of variants in gene MFF reported as uncertain significance for Encephalopathy due to defective mitochondrial and peroxisomal fission 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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.223G>A (p.Asp75Asn)
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr)	rs1414317381
NM_001277062.2(MFF):c.403G>A (p.Val135Ile)
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg)	rs2076297587

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