ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 1; Aplastic anemia by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00105
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001

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