ClinVar Miner

List of variants in gene STXBP1 reported as likely pathogenic by Mendelics

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del) rs1588306876
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025

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