List of variants in gene STXBP1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 7

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 9q34.11(chr9:130438083-130446756)x1
NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys)	rs1841616772
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)	rs1211863124
NM_001032221.6(STXBP1):c.536T>A (p.Leu179His)	rs2131462929
NM_001032221.6(STXBP1):c.664-1G>A	rs1554777464
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro)	rs2131481488
NM_001032221.6(STXBP1):c.963+3A>C	rs2131489143

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