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The amount of variants in ClinVar which are contained within just this gene, that has a website link to view the listing of variants.
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide construction and comparison of computational applications that forecast their utilization.
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The distributing Business for this submitted (SCV) record. This column also features the SCV accession and Variation variety, the day this SCV 1st appeared in ClinVar, along with the date this SCV was previous updated in ClinVar.
The outcome in the variant on RNA or protein functionality, according to experimental proof from submitters.
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