List of variants reported as likely pathogenic for Shwachman syndrome

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024580.6(EFL1):c.89A>G (p.His30Arg)	rs370108445	0.00004
NM_024580.6(EFL1):c.1514T>C (p.Phe505Ser)	rs763132789	0.00002
NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala)	rs756494164	0.00002
NM_024580.6(EFL1):c.2260C>T (p.Arg754Ter)	rs1330065864	0.00001

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