PRPF40A — 55 ClinVar variants

All ClinVar germline PRPF40A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

2 Benign · 53 Uncertain significance

Full PRPF40A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All PRPF40A variants

Benign 2

p.Ser646= Multiple submitters
c.1606-8_1606-3del Single submitter

Uncertain significance 53

p.Ala150Val Single submitter
p.Ala225Thr Single submitter
p.Ala297Gly Single submitter
p.Ala298Val Single submitter
p.Ala306Gly Single submitter
p.Ala355Val Single submitter
p.Ala445Val Single submitter
p.Ala548Thr Single submitter
p.Ala602Gly Single submitter
p.Arg623Gln Single submitter
p.Arg840Cys Single submitter
p.Arg842His Single submitter
p.Arg866Cys Single submitter
p.Arg894Lys Single submitter
p.Asn310Ser Single submitter
p.Asp591Glu Single submitter
p.Asp941Gly Single submitter
p.Gly939Ala Single submitter
p.His73Pro Single submitter
p.His817Tyr Single submitter
p.His84Gln Single submitter
p.His855Asn Single submitter
p.Ile240Val Single submitter
p.Ile279Met Single submitter
p.Ile336Val Single submitter
p.Ile514Val Single submitter
p.Lys408Asn Single submitter
p.Lys888Glu Single submitter
p.Lys911Arg Single submitter
p.Lys936Glu Single submitter
p.Met112Val Single submitter
p.Met118Val Single submitter
p.Met127Leu Single submitter
p.Met136Val Single submitter
p.Met147Val Single submitter
p.Met504Thr Single submitter
p.Met504Val Single submitter
p.Met587Thr Single submitter
p.Met92Val Single submitter
p.Phe482Val Single submitter
p.Pro106Ala Single submitter
p.Pro212Ala Single submitter
p.Ser473Leu Single submitter
p.Ser481Ala Single submitter
p.Ser843Phe Single submitter
p.Ser874Thr Single submitter
p.Thr219Ile Single submitter
p.Thr281Ile Single submitter
p.Thr360Ala Single submitter
p.Thr404Ser Single submitter
p.Thr577Ala Single submitter
p.Thr709Ser Single submitter
p.Val814Met Single submitter