List of variants in gene STXBP1 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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: 5

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HGVS	dbSNP	gnomAD frequency
NC_000009.12:g.127681712_127692172del
NM_001032221.6(STXBP1):c.1216C>G (p.Arg406Gly)	rs796053367
NM_001032221.6(STXBP1):c.1249+1G>A	rs1057519189
NM_001032221.6(STXBP1):c.1359+1G>T	rs796053370
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	rs796053356

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