ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 1 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_016038.4(SBDS):c.101dup (p.Asn34fs) rs2536932431
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099

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