List of variants reported as likely pathogenic for Shwachman-Diamond syndrome 1

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Total variants: 12

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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.388G>A (p.Val130Met)	rs201070132	0.00009
NM_001012339.3(DNAJC21):c.983+1G>A	rs368148362	0.00002
NM_016038.4(SBDS):c.167T>C (p.Val56Ala)	rs1584437592
NM_016038.4(SBDS):c.305_308del (p.Thr102fs)	rs745661722
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)	rs1411636529
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
NM_016038.4(SBDS):c.566del (p.Lys189fs)
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr)	rs2129231218
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)	rs757497272
NM_016038.4(SBDS):c.664G>T (p.Glu222Ter)

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