EFCAB10 — 4 ClinVar variants

All ClinVar germline EFCAB10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

3 Benign · 1 Likely benign

Full EFCAB10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All EFCAB10 variants

Benign 3

c.384-16A>T Multiple submitters
c.384-23T>G Multiple submitters infantile liver failure syndrome 3
p.Lys122Arg Single submitter

Likely benign 1

c.384-1G>A Multiple submitters