ClinVar Miner

List of variants in gene SCN2A reported as pathogenic for Autism spectrum disorder

Minimum submission review status:		Collection method:
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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)	rs2467933702
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	rs1553578503

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