ClinVar Miner

List of variants in gene STXBP1 studied for Intellectual disability

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg) rs886039435
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del) rs1841769844
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.238T>C (p.Ser80Pro) rs1840867221
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly) rs1841140785
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs) rs1841239642
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025

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