List of variants in gene SBDS reported as pathogenic for Shwachman-Diamond syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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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.258+1G>C	rs113993992	0.00002
NM_016038.4(SBDS):c.13del (p.Thr5fs)	rs772797192	0.00001
NC_000007.14:g.66971410_66990307del
NM_016038.2(SBDS):c.625-1delG	rs1792914342
NM_016038.4(SBDS):c.101dup (p.Asn34fs)
NM_016038.4(SBDS):c.120del (p.Ser41fs)	rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)	rs113993991
NM_016038.4(SBDS):c.18del (p.Thr7fs)	rs1584439050
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	rs28942099
NM_016038.4(SBDS):c.258+347_459+223del
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	rs113993994
NM_016038.4(SBDS):c.460-1G>A	rs1792969582
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)	rs373730800

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