ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 1 by Genetic Services Laboratory,University of Chicago

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Total variants: 2
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NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.258+2T>C rs113993993

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