List of variants in gene MTRFR reported as pathogenic for Combined oxidative phosphorylation defect type 7; Spastic paraplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_152269.5(MTRFR):c.210del (p.Gly72fs)	rs576462794	0.00016
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs)	rs863223926	0.00006
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)	rs397514539	0.00001
NC_000012.11:g.(?_123738222)_(123738523_?)del
NC_000012.11:g.(?_123741340)_(123741578_?)del
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
NM_152269.5(MTRFR):c.307del (p.Gln103fs)	rs2048187051
NM_152269.5(MTRFR):c.33dup (p.Pro12fs)	rs2048143498
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter)	rs2138800520

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