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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence thr777 modifications on RNA splicing propose that this variant could generate or bolster a splice web-site. In summary, the out there proof is at this time insufficient to determine the part of this variant in disease. Therefore, it's been categorised to be a Variant of Unsure Importance. OK
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The worldwide minor allele frequency calculated through the one thousand Genomes Job. The insignificant allele at this area is indicated in parentheses and should be different in the allele represented by this VCV document.
Stars represent the review position, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI determined by details from your submitter.
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