ClinVar Miner

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

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter) rs994917847 0.00001
NM_001083614.2(EARS2):c.212del (p.Phe71fs) rs778413603
NM_020442.6(VARS2):c.667G>T (p.Glu223Ter)
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_024678.6(NARS2):c.936_949dup (p.Asn317delinsIleCysTer)
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)

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