List of variants reported as pathogenic for Shwachman-Diamond syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)	rs376095522	0.00004
NM_024580.6(EFL1):c.89A>G (p.His30Arg)	rs370108445	0.00004
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala)	rs756494164	0.00002
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys)	rs1316615934	0.00001
NM_024580.6(EFL1):c.2908C>T (p.Arg970Cys)	rs757808847	0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)	rs1441937959	0.00001
NM_016038.4(SBDS):c.101dup (p.Asn34fs)
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	rs113993991
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	rs28942099
NM_024580.6(EFL1):c.1514T>C (p.Phe505Ser)	rs763132789
NM_024580.6(EFL1):c.2260C>T (p.Arg754Ter)	rs1330065864
NM_024580.6(EFL1):c.2478dup (p.Gly827fs)	rs1380341628
NM_024580.6(EFL1):c.2647T>G (p.Cys883Gly)	rs2141228362

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