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Protocols

ClinVar specifications

Information


Unique identifier OMICS_00262
Name ClinVar
Restrictions to use None
Community driven No
Data access File download, Browse, Application programming interface
User data submission Allowed
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainers


  • person_outline ClinVar
  • person_outline Melissa Landrum

Publications for ClinVar

ClinVar citations

 (343)
library_books

Copy number variants implicate cardiac function and development pathways in earthquake induced stress cardiomyopathy

2018
Sci Rep
PMCID: 5954162
PMID: 29765130
DOI: 10.1038/s41598-018-25827-5

[…] laxy (via usegalaxy.org). Allele frequencies and additional annotations were drawn from 1000 Genomes project, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA (http://evs.gs.washington.edu/EVS/), ClinVar, and Exome Aggregation Consortium (ExAC), Cambridge, MA (http://exac.broadinstitute.org). Promising gene variants were inspected by Sanger sequence analysis on the appropriate genomic DNA samp […]

library_books

A case of Raine syndrome presenting with facial dysmorphy and review of literature

2018
BMC Med Genet
PMCID: 5948820
PMID: 29751744
DOI: 10.1186/s12881-018-0593-x

[…] le ). Sequencing confirmed both the parents to be heterozygous, and the proband to be homozygous for c.1228 T > A (p.Ser410Thr) variant in exon 6 of FAM20C gene (Fig. ). This variant was submitted to ClinVar database (accession ID is SCV000583504.1). During a subsequent pregnancy, the same family approached again for genetic counseling. The prenatal diagnosis revealed a heterozygous state of the f […]

library_books

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita

2018
PMCID: 5959423
PMID: 29742735
DOI: 10.1097/MD.0000000000010724

[…] ing the BWA software and analyzed by the Picard-tools-1.118, GATK.v4, and SnpEff_v4.1.software.[–] The mean depth of target regions was 141X. Variants were annotated using dbSNP142, 1000 Genome, ESP, ClinVar, and our in-house database. Finally, candidate pathogenic variants identified by WES were verified with Sanger sequencing.Three-dimensional structures’ templates of wild type (WT) and mutant T […]

library_books

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

2018
PMCID: 5944100
PMID: 29743074
DOI: 10.1186/s12931-018-0789-9

[…] eotide variants in the dbNSFP database, which included results from SIFT, Ployphen-2, MutationTaster, the dbscSNV database. In addition, the clinical significance of the sequences was annotated using Clinvar (http://www.ncbi.nlm.nih.gov/clinvar/), OMIM (http://omim.org/), Uniprot (http://www.uniprot.org/) and HGMD (http://www.hgmd.org). Variants with cutoff values greater than 0.6 in the dbscSNV d […]

library_books

VAReporter: variant reporter for cancer research of massive parallel sequencing

2018
BMC Genomics
PMCID: 5954270
PMID: 29764369
DOI: 10.1186/s12864-018-4468-5

[…] rehensive list of support formats with respect to single and paired samples. A wide variety of biomedical databases, including dbSNP [], 1000 Genomes [], COSMIC, the Cancer Gene Census [], dbNSFP [], Clinvar [], OMIM [], RefSeq [], UniProt [], Pfam [], GO [], KEGG [], DrugBank [], the DGIdb [] and the Human Gene Mutation Database [] (HGMD), were compiled as local annotation databases to facilitate […]

library_books

A genome wide survey of mutations in the Jurkat cell line

2018
BMC Genomics
PMCID: 5941560
PMID: 29739316
DOI: 10.1186/s12864-018-4718-6

[…] 7% of the 18 thousand COSMIC deletion calls and 40% of the 2260 COSMIC insertion calls in our data.Our final comparison to previously identified variants focused on rare, pathogenic variants from the ClinVar database. After removing records without assertion criteria, corresponding to a review status of zero stars, 10 Jurkat variants were reported as pathogenic by ClinVar (Table ). Interestingly, […]


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ClinVar institution(s)
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA

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