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Stars stand for the overview position, or the extent of assessment supporting the submitted (SCV) history. This value is calculated by NCBI based upon info within the submitter.
The number of variants in ClinVar for this gene, such as smaller variants throughout the gene and bigger CNVs that overlap or entirely have the gene.
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The worldwide small allele frequency calculated via the one thousand Genomes Challenge. The slight allele at this place is indicated in parentheses and could be various with the allele represented by this VCV record.
Aberrant 5' splice sites in human condition genes: mutation pattern, nucleotide framework and comparison of computational instruments that forecast their utilization.
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This date signifies the final time this VCV file was up to date. The update could possibly be resulting from an update to among the list of involved submitted data (SCVs), or on account of an update that ClinVar manufactured to your variant for instance including HGVS expressions or perhaps a rs number.
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Read our principles for calculating the evaluate position. This column also includes a link into the submitter’s assertion standards if offered, and the gathering process.