CFAP20DC — 15 ClinVar variants
All ClinVar germline CFAP20DC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
2 Benign · 1 Benign/Likely benign · 2 Likely benign · 10 Uncertain significance
Full CFAP20DC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CFAP20DC variants
Benign 2
- p.Arg222His Multiple submitters
- p.Ile260= Multiple submitters
Benign/Likely benign 1
- p.Gln418Glu Multiple submitters
Likely benign 2
- c.1135+4T>G Single submitter
- p.Val512Met Single submitter
Uncertain significance 10
- p.Arg201Ter Single submitter primary ciliary dyskinesia
- p.Arg295Ter Single submitter tuberous sclerosis 2
- p.Arg362Thr Single submitter
- p.Cys136Phe Single submitter
- p.Glu462Gln Single submitter
- p.His346Pro Single submitter
- p.Leu267Phe Single submitter
- p.Lys168Asn Single submitter
- p.Lys367Arg Single submitter
- p.Val289Ala Single submitter