ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter) rs866158774
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988

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