ClinVar Miner

List of variants in gene STXBP2 reported as uncertain significance for Abnormal bleeding; Thrombocytopenia

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met) rs200135215 0.00008
NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp) rs768296460 0.00006
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401

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