ClinVar Miner

List of variants in gene MTRFR reported as pathogenic for inborn mitochondrial metabolism disorder

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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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
GRCh37/hg19 12q24.31(chr12:123738221-123738503)
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
NC_000012.11:g.(?_123738222)_(123738523_?)del
NC_000012.11:g.(?_123741340)_(123741578_?)del
NM_152269.5(MTRFR):c.127_146del (p.Met43fs) rs2048145654
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
NM_152269.5(MTRFR):c.207_220del (p.Pro70fs)
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_152269.5(MTRFR):c.282+2T>A rs587777668
NM_152269.5(MTRFR):c.307del (p.Gln103fs) rs2048187051
NM_152269.5(MTRFR):c.33dup (p.Pro12fs) rs2048143498
NM_152269.5(MTRFR):c.346del (p.Lys115_Val116insTer) rs398122972
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter) rs2138800520
NM_152269.5(MTRFR):c.413_417del (p.Lys138fs) rs587777667
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter) rs398122365

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