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The worldwide minimal allele frequency calculated through the one thousand Genomes Undertaking. The minimal allele at this location is indicated in parentheses and will be diverse within the allele represented by this VCV report.
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03%). This variant hasn't been noted in the literature in persons affected with GAA-linked situations. ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the outcome of sequence adjustments on RNA splicing counsel that this variant may possibly build or reinforce a splice web-site. In summary, the accessible evidence is at this time inadequate to determine the purpose of the variant in disease. As a result, it has been labeled as a Variant of Uncertain Significance. Okay