List of variants reported as uncertain significance for Shwachman-Diamond syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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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_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)	rs142389949
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)	rs756768331

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