clinvar
clinvar copied to clipboard
ncbi
ClinVar aggregates information about genomic variation and its relationship to human health. Contact us at '[email protected]' with any questions or comments.
Hello, we use in our project the following API: https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?&db=clinvar&api_key= which returns an xml. For the xml tag: => the value is returned wrong. The year is correct, but the...
**Q1. Could you please clarify a recent change to the VCF file?** There was a recent (as far as I can tell) undocumented change to the VCF format - it...
On this page: https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/ There is a broken link to VCFs: https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf/ Should be https://ftp.ncbi.nih.gov/pub/clinvar/vcf_GRCh37/ https://ftp.ncbi.nih.gov/pub/clinvar/vcf_GRCh38/
The [variant 15163](https://www.ncbi.nlm.nih.gov/clinvar/variation/15163/) has ALT 'YT', which is also correctly encoded in the [XML file](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/weekly_release/ClinVarFullRelease_2024-0107.xml.gz) (note the last output line shown): ``` $ zgrep -A 12 Acc=\"VCV000015163\" ClinVarFullRelease_2024-0107.xml.gz NM_000518.5(HBB):c.152_153delinsAR (p.Thr51Lys)...
Dear ClinVar team, We've identified these 307 variation IDs that were present in the October 7th export, but not anymore in the October 15th export. Is this an export error?...
Metadata
Owner
Metadata
ClinVar aggregates information about genomic variation and its relationship to human health. Contact us at '[email protected]' with any questions or comments.