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Article

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Human mutation - 1 Aug 2018

Henrie Alex, Hemphill Sarah E, Ruiz-Schultz Nicole, Cushman Brandon, DiStefano Marina T, Azzariti Danielle, Harrison Steven M, Rehm Heidi L, Eilbeck Karen

Abstract excerpt

ClinVar Miner is a Web-based suite that utilizes the data held in the National Center for Biotechnology Information's ClinVar archive. The goal is to render the data more accessible to processes pertaining to conflict resolution of variant interpretation as well as tracking details of data submission and data management for detailed variant curation. Here, we establish the use of these tools to address three...

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Identifiers

PMID: 29790234
DOI: 10.1002/humu.23555
PMCID: PMC6043391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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