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The volume of variants in ClinVar for this gene, such as scaled-down variants throughout the gene and larger CNVs that overlap or completely consist of the gene.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence adjustments on RNA splicing propose that this variant could make or improve a splice web page. In summary, the available proof is currently insufficient to ascertain the position of the variant in condition. Therefore, it has been categorized for a Variant of Uncertain Significance. Okay
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