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STXBP6

Synonyms
HSPC156, amisyn
External resources
Summary
STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
591
Likely benign
214
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on STXBP6 gene.

Phenotype class
Patients in 3billion (%)

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