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The volume of variants in ClinVar for this gene, which includes scaled-down variants within the gene and bigger CNVs that overlap or absolutely include the gene.

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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence modifications on RNA splicing recommend that this variant could make or improve a splice website. In summary, the offered proof is currently insufficient to determine the function of the variant in disorder. Hence, it's been categorized like a Variant of Unsure Significance. OK

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The worldwide slight allele frequency calculated because of the one thousand Genomes Task. The slight allele at this spot is indicated in parentheses and should be distinct through the allele represented by this VCV file.

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