List of variants in gene MTRFR studied for Hereditary spastic paraplegia 55

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)	rs397514539	0.00001
NM_152269.5(MTRFR):c.127_146del (p.Met43fs)	rs2048145654
NM_152269.5(MTRFR):c.215G>C (p.Gly72Ala)	rs1207537130
NM_152269.5(MTRFR):c.248del (p.Val83fs)	rs587776508
NM_152269.5(MTRFR):c.282+2T>A	rs587777668
NM_152269.5(MTRFR):c.346del (p.Lys115_Val116insTer)	rs398122972
NM_152269.5(MTRFR):c.413_417del (p.Lys138fs)	rs587777667
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)	rs398122365

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