List of variants in gene STXBP1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1702+10C>T	rs147607230	0.00081
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)	rs201809337	0.00005
NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp)	rs750968891	0.00001
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His)	rs749244650	0.00001
NM_003165.6(STXBP1):c.1755C>T (p.Pro585=)	rs781575209	0.00001
NM_001032221.6(STXBP1):c.1231T>C (p.Tyr411His)	rs797046016
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)	rs1462537561
NM_001032221.6(STXBP1):c.575G>A (p.Arg192Gln)	rs1434679305
NM_001032221.6(STXBP1):c.635A>G (p.Tyr212Cys)	rs1554777372
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu)	rs587784456
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	rs786205598

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