ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (81):
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ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala) rs200086297 0.00026
NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro) rs762821280 0.00009
NM_025150.5(TARS2):c.49G>A (p.Ala17Thr) rs367864616 0.00008
NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe) rs373031772 0.00006
NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln) rs753748448 0.00001
NM_001083614.2(EARS2):c.1488+61del
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)
NM_005035.4(POLRMT):c.2369G>A (p.Arg790Gln)
NM_005932.4(MIPEP):c.791G>A (p.Arg264Gln)
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs) rs759445569
NM_018127.7(ELAC2):c.1033C>T (p.Pro345Ser)
NM_020745.4(AARS2):c.1846G>A (p.Val616Met)
NM_024537.4(CARS2):c.465+3A>G
NM_025150.5(TARS2):c.1312C>G (p.Arg438Gly)
NM_025150.5(TARS2):c.983G>C (p.Gly328Ala)
NM_032380.5(GFM2):c.1642A>G (p.Lys548Glu)
NM_032380.5(GFM2):c.1758G>C (p.Arg586Ser)
NM_152269.5(MTRFR):c.292A>C (p.Thr98Pro)

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