List of variants in gene STXBP1 reported as pathogenic by GenomeConnect - Simons Searchlight

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: 26

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 9q34.11(chr9:130431762-130432190)x1
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)	rs796053365
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	rs796053366
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	rs121918321
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.124T>C (p.Ser42Pro)	rs886041668
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs)	rs1554778657
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs)	rs1554778928
NM_001032221.6(STXBP1):c.1574del (p.Asn525fs)	rs1842039949
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs)	rs1554778930
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.170-2A>G	rs1554776674
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.298del (p.Arg100fs)	rs1554776842
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	rs794727792
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.663+1G>C	rs1841240415
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)	rs1554777470
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	rs796053359
NM_001032221.6(STXBP1):c.794+5G>A	rs1057520631
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)	rs796053361
NM_001032221.6(STXBP1):c.875G>C (p.Arg292Pro)	rs796053361
NM_001032221.6(STXBP1):c.902+1G>C	rs886041978
NM_001032221.6(STXBP1):c.989dup (p.Met330fs)	rs1841564743

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