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The number of variants in ClinVar which are contained inside this gene, using a link to look at the listing of variants.
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The amount of variants in ClinVar for this gene, including more compact variants within the gene and bigger CNVs that overlap or totally comprise the gene.
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The global minimal allele frequency calculated through the a thousand Genomes Venture. The insignificant allele at this area is indicated in parentheses and may be unique with the allele represented by this VCV record.
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This column contains additional information supporting the classification, together with citations, the comment on classification, and in depth evidence presented as observations of your variant by the submitter.
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The result of the variant on RNA or protein purpose, according to experimental proof from submitters.
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The global slight allele frequency calculated because of the a thousand Genomes Venture. The minor allele at this site is indicated in parentheses and may be unique in the allele represented by this VCV file.
03%). This variant hasn't been reported during the literature in men and women affected with GAA-relevant circumstances. ClinVar has an entry for link thr777 this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the influence of sequence modifications on RNA splicing advise this variant might make or strengthen a splice internet site. In summary, the out there evidence is at the moment inadequate to ascertain the role of this variant in ailment. Hence, it's been classified as being a Variant of Uncertain Significance. Okay