ClinVar Miner

List of variants in gene STXBP1 reported by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG	rs1588339504
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353

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