ClinVar Miner

List of variants in gene STXBP1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1548-18TC[3] rs148316151
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361

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