ClinVar Miner

List of variants reported as pathogenic for Shwachman-Diamond syndrome 1 by Molecular ImmunoRheumatology UMRS_1109,Institut national de la santé et de la recherche médicale

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Total variants: 3
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NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) rs1555354200
NM_003136.4(SRP54):c.343_345ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750

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