ClinVar Miner

List of variants in gene STXBP1 reported as pathogenic for Cerebellar ataxia; Tremor; Moderate global developmental delay

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	rs796053366

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