List of variants reported as uncertain significance for Shwachman-Diamond syndrome 1

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001012339.3(DNAJC21):c.1186-531G>A	rs112971776	0.00144
NM_016038.4(SBDS):c.664G>C (p.Glu222Gln)	rs371133001	0.00006
NM_016038.4(SBDS):c.719A>G (p.Lys240Arg)	rs377761960	0.00004
NM_016038.4(SBDS):c.173T>C (p.Val58Ala)	rs747222022	0.00002
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	rs113993996	0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	rs774976459	0.00001
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)	rs142389949
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)	rs756768331
NM_016038.4(SBDS):c.128+3G>C
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
NM_016038.4(SBDS):c.326G>C (p.Arg109Thr)	rs2129232269
NM_016038.4(SBDS):c.38C>T (p.Thr13Ile)
NM_016038.4(SBDS):c.40A>G (p.Asn14Asp)
NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)

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