List of variants in gene STXBP1 reported as 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1017del (p.Glu340fs)	rs1841566082
NM_001032221.6(STXBP1):c.1029+1G>A	rs727504173
NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter)	rs1841613716
NM_001032221.6(STXBP1):c.1092del (p.Lys364fs)	rs1841615616
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.1249+1G>C	rs1057519189
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)	rs796053368
NM_001032221.6(STXBP1):c.1461+5G>A	rs1841870815
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs)	rs1842042825
NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu)	rs1842044352
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)	rs121918317
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.170-1G>C	rs112002192
NM_001032221.6(STXBP1):c.512_513del (p.Arg171fs)	rs1841137524
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs)	rs1841286087
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	rs786205598
NM_001032221.6(STXBP1):c.906_912del (p.Glu302fs)	rs1841465369

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