Issues

• Selenoproteins read every UGA as selenocysteine

  varfish-org/hgvs-rs#292 · Filter by author Hoeze opened on Sep 25, 2026

• docs: clarify changelog entry for 'arbitrary assemblies' (v0.22.0)

  varfish-org/hgvs-rs#279 · Filter by author coderabbitai opened on Apr 11, 2026

• TxIdentityInfo fails to handle non-coding (NR_) transcripts due to non-nullable CDS fields

  varfish-org/hgvs-rs#255 · Filter by author nh13 opened on Jan 7, 2026

• Port over biocommon/hgvs#719 (Fix ins or dups where splice region is preserved)

  enhancement
  varfish-org/hgvs-rs#194 · Filter by author holtgrewe opened on Jul 24, 2024

• Port over biocommons/hgvs#709 (Fix variant region for ins and dup on intron-exon boundary)

  enhancement
  varfish-org/hgvs-rs#193 · Filter by author holtgrewe opened on Jul 24, 2024

• Address stop codon recoding / stop codon readthrough (SCR)

  enhancement
  varfish-org/hgvs-rs#143 · Filter by author holtgrewe opened on Nov 10, 2023
  2

• Allow predictions even for transcripts that have more than one stop codon

  enhancement
  varfish-org/hgvs-rs#130 · Filter by author holtgrewe opened on Oct 21, 2023
  1

  

• Support representing repeated sequences from varnomen

  enhancement
  varfish-org/hgvs-rs#126 · Filter by author holtgrewe opened on Jul 19, 2023

• Use features to opt-in into sqlite3 and libpostgres dependencies

  enhancement
  varfish-org/hgvs-rs#122 · Filter by author holtgrewe opened on Jul 6, 2023

• Potentially incorrect prection results

  enhancement
  varfish-org/hgvs-rs#63 · Filter by author holtgrewe opened on Mar 27, 2023
  1

• Split provider interface

  enhancement
  varfish-org/hgvs-rs#46 · Filter by author holtgrewe opened on Mar 13, 2023

• Port over clinvar tests

  enhancement
  varfish-org/hgvs-rs#34 · Filter by author holtgrewe opened on Mar 2, 2023

• Finish porting over test_hgvs_grammar.py

  enhancement
  varfish-org/hgvs-rs#30 · Filter by author holtgrewe opened on Mar 2, 2023

• Implement translation between HGVS and VCF

  enhancement
  varfish-org/hgvs-rs#29 · Filter by author holtgrewe opened on Mar 2, 2023
  1

• Fix intronic dup prediction issue from DNA11-dbSNP.tsv

  enhancement
  varfish-org/hgvs-rs#28 · Filter by author holtgrewe opened on Mar 2, 2023

• Allow for configuring how Display works

  enhancement
  varfish-org/hgvs-rs#25 · Filter by author holtgrewe opened on Feb 28, 2023

• Complete validation

  enhancement
  varfish-org/hgvs-rs#17 · Filter by author holtgrewe opened on Feb 21, 2023