What do gnomAD and ClinVar show for HNF1B?
One question brings together gene constraint and five source-linked variant records.
Ask your AI client
Use GeneFoundry to look up HNF1B in gnomAD on GRCh38. Show its gene-level constraint metrics, then get five ClinVar variants sorted by review status. Include variant names, classifications, review stars and links to the original records.
The result
GeneFoundry resolved HNF1B to ENSG00000275410 and returned gene constraint from gnomAD 4.1.1. The ClinVar query returned five of 933 HNF1B records, sorted by review status.
| Metric | Recorded value |
|---|---|
| Loss-of-function observed / expected | 0.130 (upper bound 0.234) |
| pLI | 1.000 |
| Variant on NM_000458.4 | Submitted classification | Review stars | Source record |
|---|---|---|---|
| c.529C>T (p.Arg177Ter) | pathogenic | 2 / 4 | VCV000012635 |
| c.301G>T (p.Glu101Ter) | pathogenic | 2 / 4 | VCV000012638 |
| c.826C>T (p.Arg276Ter) | pathogenic | 2 / 4 | VCV000012640 |
| c.544+1G>A | likely pathogenic | 2 / 4 | VCV000012643 |
| c.544+1G>T | pathogenic | 2 / 4 | VCV000012644 |
Constraint values are rounded from the response: 8 observed loss-of-function variants versus 61.689 expected. These are gene-level metrics, not an allele frequency.
All five listed records had “criteria provided, multiple submitters, no conflicts” review status. Five rows are a sample; the response reports more records.
Original source records
How GeneFoundry got this
Confirm the gene
Search the exact HNF1B symbol in the GRCh38 reference. Check the match before using the gene in later calls.
gnomad_search_genes{ "query": "HNF1B", "reference_genome": "GRCh38", "limit": 5 }Read gene-level constraint
Request the resolved gene’s constraint and coordinate context. These describe the gene, not the pathogenicity of a particular allele.
gnomad_get_gene_details{ "gene": "ENSG00000275410", "reference_genome": "GRCh38", "response_mode": "compact" }Choose variant records to read next
Request five records sorted by review status. Open their source records and choose a specific allele for a subsequent variant-level investigation.
clinvar_get_variants_by_gene{ "gene_symbol": "HNF1B", "sort": "stars_desc", "limit": 5, "offset": 0, "response_mode": "compact" }
Gene-level constraint and submitted ClinVar classifications are different evidence. This result does not classify a new variant or establish a diagnosis.