I am looking at the UGT2B7 gene which is known to have a lot of clinically relevant deletions which take out the whole gene but Gnomad doesnt seem to count these as LOF. I was wondering if there is any way to find these and shouldn’t Gnomad flag these as LOF?
okay sorry - looked at UGT2B7 but it is actually 2B17 - duh
If I’m understanding correctly, it looks like you resolved your own question and the deletions of UGT2B17 are annotated as expected. If that’s not the case, please share additional information (ie. links to specific variants) so we can help you. Thanks!