COX7A2 — 23 ClinVar variants
All ClinVar germline COX7A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
3 Likely benign · 20 Uncertain significance
Full COX7A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll COX7A2 variants
Likely benign 3
- c.-34C>G Single submitter
- c.-59C>T Single submitter
- p.Val49Ile Single submitter
Uncertain significance 20
- c.-14C>T Single submitter
- c.-26G>A Single submitter
- c.-41T>G Single submitter
- c.-50T>A Single submitter
- c.-77A>G Single submitter
- c.-80C>T Single submitter
- c.-89C>T Single submitter
- c.-90A>T Single submitter
- c.-91T>G Single submitter
- p.Arg3Gln Single submitter
- p.Arg3Leu Single submitter
- p.Arg9Cys Single submitter
- p.Arg9His Single submitter
- p.Gly48Arg Single submitter
- p.Ile11Val Single submitter
- p.Ile16Met Single submitter
- p.Leu73Met Single submitter
- p.Met1Val Single submitter
- p.Pro29Leu Single submitter
- p.Thr15Met Single submitter