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
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter)	rs113993991
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	rs28942099
NM_016038.4(SBDS):c.258+2T>C	rs113993993
SBDS, 1-BP INS, 96A

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