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ClinVar information


ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, UniProt, expert panels and practical guidelines. [1][2][3]

  1. ^ Landrum, M.J.; Lee, J.M.; Benson, M.; Brown, G.; Chao, C.; Chitipiralla, S.; Gu, B.; Hart, J.; Hoffman, D.; Hoover, J.; Jang, W. (2016). "ClinVar: public archive of interpretations of clinically relevant variants". Nucleic Acids Research. 44 (D1): D862–D868. doi:10.1093/nar/gkv1222. PMC 4702865. PMID 26582918.
  2. ^ Landrum, M. J.; Kattman, B. L. (2018). "ClinVar at five years: delivering on the promise". Human Mutation. 39 (11): 1623–1630. doi:10.1002/humu.23641. PMID 30311387. S2CID 52963829.
  3. ^ Tina Hesman Saey (2018). "What genetic tests from 23andMe, Veritas and Genos really told me about my health". ScienceNews.

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ClinVar

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ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database...

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Dysmorphic feature

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databases that labs use to deposit their diagnostic findings, such as ClinVar, can be used to build knowledge graphs to explore the clinical feature...

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Color Genomics

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with advanced prostate cancer. Color contributes anonymized variants to ClinVar, a free database managed by the National Center for Biotechnology Information...

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ANNOVAR

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deleterious genetic variant prediction scores from programs such as PolyPhen, ClinVar, and CADD and annotates the SNVs, insertions, deletions, and CNVs of the...

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Tyrosinase

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representation of the intron-exon organization of tyrosinase (TYP) gene in humans (ClinVar: NM_ 000372). Open and closed boxes represent protein-coding and untranslated...

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Hypochondroplasia

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2023-02-28. "NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) AND Hypochondroplasia - ClinVar - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016. Reference, Genetics...

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C9orf64

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24 other tissues. 22 variants have been annotated in the NIH Database, ClinVar, linked to disease conditions such as seizures, developmental delay, and...

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Variome

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Genome project) dbSNP: The Single Nucleotide Polymorphism Database ClinVar: ClinVar archives and aggregates information about relationships among variation...

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MutationTaster

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binding sites) Integrated data sources (among others): Ensembl UniProt ClinVar ExAC 1000 Genomes Project phyloP phastCons The single results are then...

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CCDC142

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ILMN_3023885". www.ncbi.nlm.nih.gov. Retrieved 2016-05-01. ClinVar. "No items found – ClinVar – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-05. Orekhova...

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SNP annotation

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level), including InDels. Ensembl, 1000 Genomes Project, ExAC, UniProt, ClinVar, phyloP, phastCons, nnsplice, polyadq (...) http://www.mutationtaster.org/...

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The Monarch Initiative

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Consortium Mouse Phenome Database Online Mendelian Inheritance in Animals ClinVar Mendelian Inheritance in Man ORPHANET Protein ANalysis THrough Evolutionary...

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De novo gene birth

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initiation context of the start codon indicate purifying selection 41 Clinvar variants that affect the ORF-Y peptide but not the amino acid sequence...

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Solanum torvum

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Linnaeus (as var.? persicifolium) Solanum chrysotrichum of von Schlechtendal (as var. pleiotomum) Solanum ferrugineum (as var. ferrugineum, var. hartwegianum)...

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Endive

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main varieties of cultivated C. endivia chicon: Curly endive, or frisée (var. crispum). This type has narrow, green, curly outer leaves. It is sometimes...

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Humulus lupulus

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species (Humulus lupulus) are: H. l. var. lupulus – Europe, western Asia H. l. var. cordifolius – eastern Asia H. l. var. lupuloides (syn. H. americanus)...

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Standard error

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variance Var ⁡ ( T ) = ( Var ⁡ ( x 1 ) + Var ⁡ ( x 2 ) + ⋯ + Var ⁡ ( x n ) ) = n σ 2 . {\displaystyle \operatorname {Var} (T)={\big (}\operatorname {Var}...

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Pulsus Group

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Pulsus Group is a health informatics and digital marketing company and publisher of scientific, technical, and medical literature. It was formed in 1984...

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Broccoli

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Broccoli (Brassica oleracea var. italica) is an edible green plant in the cabbage family (family Brassicaceae, genus Brassica) whose large flowering head...

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Solanum linnaeanum

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advanced solid tumors. Abstract of presentation at 2005 ASCO Annual Meeting. J. Clin. Oncol. 23(16S): 3105 HTML fulltext Roy, Bruce; Popay, Ian; Champion, Paul;...

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Cicuta maculata

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RJ, Becket G, Beasley DM (April 2009). "Poisoning due to water hemlock". Clin Toxicol. 47 (4): 270–8. doi:10.1080/15563650902904332. PMID 19514873. S2CID 21855822...

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Durum

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"Clinical and diagnostic aspects of gluten related disorders". World J Clin Cases. 3 (3): 275–84. doi:10.12998/wjcc.v3.i3.275. PMC 4360499. PMID 25789300...

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Aconitum carmichaelii

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University Press. pp. 151–152. Chan TY (April 2009). "Aconite poisoning". Clin Toxicol. 47 (4): 279–85. doi:10.1080/15563650902904407. PMID 19514874. S2CID 2697673...

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Geotrichum

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retrospective multicenter study from Italy and review of the literature". J Clin Microbiol. 43 (4): 1818–28. doi:10.1128/JCM.43.4.1818-1828.2005. PMC 1081342...

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