ClinVar Miner

List of variants reported as not provided for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836 0.01018
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_017909.4(RMND1):c.1085G>A (p.Arg362His) rs142588921 0.00091
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr) rs141789665 0.00084
NM_022915.5(MRPL44):c.496G>A (p.Val166Met) rs141821599 0.00022
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_001083614.2(EARS2):c.164G>A (p.Arg55His) rs770862902 0.00010
NM_020442.6(VARS2):c.1850C>T (p.Thr617Met) rs367837827 0.00008
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_024678.6(NARS2):c.595-6T>G rs774848576 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro) rs749048646 0.00001
NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser) rs758835610 0.00001
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln) rs761022161 0.00001
NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn) rs747870375 0.00001
NM_032380.5(GFM2):c.1229T>A (p.Ile410Lys) rs863224037 0.00001
GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1
GRCh37/hg19 6p21.1(chr6:44274357-44278496)x1
NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn) rs999882329
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys) rs2074392366

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