ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 1; Aplastic anemia by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.160dup (p.His54fs)
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.40A>G (p.Asn14Asp)

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