CPHXL — 8 ClinVar variants

All ClinVar germline CPHXL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Benign · 7 Likely benign

Full CPHXL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CPHXL variants

Benign 1

p.Met336Val Single submitter

Likely benign 7

p.Ala379= Single submitter
p.Gly223= Single submitter
p.Gly5Ser Single submitter
p.His17= Single submitter
p.Lys178= Single submitter
p.Ser349= Single submitter
p.Thr212Lys Single submitter