List of variants studied for Shwachman-Diamond syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003136.4(SRP54):c.1327+16_1327+32del	rs369856554	0.16649
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_001012339.3(DNAJC21):c.1186-531G>A	rs112971776	0.00144
NM_003136.4(SRP54):c.636A>C (p.Ile212=)	rs140228686	0.00113
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)	rs77129269	0.00036
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)	rs142389949
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)	rs756768331
NM_016038.4(SBDS):c.120del (p.Ser41fs)	rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	rs113993991
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	rs113993994

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