ClinVar Miner

List of variants in gene SCN2A reported as pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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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
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs)	rs879253767

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