ClinVar Miner

List of variants in gene SBDS reported as likely pathogenic for Shwachman-Diamond syndrome 1

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Total variants: 4
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NM_016038.4(SBDS):c.167T>C (p.Val56Ala) rs1584437592
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132

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