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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00099
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
NM_016038.4(SBDS):c.307_308del (p.Gln103fs)

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