List of variants studied for Shwachman-Diamond syndrome by SIB Swiss Institute of Bioinformatics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)	rs79344818	0.02573
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)	rs376095522	0.00004
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	rs113993996	0.00001
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly)	rs1554341516
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu)	rs1554341499
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	rs28942099
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser)	rs1554341363

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