ClinVar Miner

List of variants studied 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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HGVS dbSNP gnomAD frequency
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) rs1555354200
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750

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