FADS1 — 26 ClinVar variants
All ClinVar germline FADS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
4 Likely benign · 22 Uncertain significance
Full FADS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll FADS1 variants
Likely benign 4
- p.Ala47= Single submitter
- p.Arg178Gln Single submitter
- p.Pro62= Single submitter
- p.Val361Ile Single submitter
Uncertain significance 22
- p.Ala221Val Single submitter
- p.Ala229Thr Single submitter
- p.Ala69Thr Single submitter
- p.Arg178Trp Single submitter
- p.Arg284His Single submitter
- p.Arg28His Single submitter
- p.Arg4His Single submitter
- p.Asp61Asn Single submitter
- p.Gln472His Single submitter
- p.Gly10Arg Single submitter
- p.Gly71Glu Single submitter
- p.His186Tyr Single submitter
- p.Leu197Phe Single submitter
- p.Leu205Phe Single submitter
- p.Leu306Ile Single submitter
- p.Met397Ile Single submitter
- p.Pro39Arg Single submitter
- p.Pro46Arg Single submitter
- p.Ser144Pro Single submitter
- p.Tyr192His Single submitter
- p.Val115Ile Single submitter
- p.Val222Leu Single submitter