List of variants in gene SBDS studied for Shwachman-Diamond syndrome 1; Aplastic anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	rs120074160	0.00105
NM_016038.4(SBDS):c.664G>C (p.Glu222Gln)	rs371133001	0.00006
NM_016038.4(SBDS):c.719A>G (p.Lys240Arg)	rs377761960	0.00004
NM_016038.4(SBDS):c.173T>C (p.Val58Ala)	rs747222022	0.00002
NM_016038.4(SBDS):c.258+1G>C	rs113993992	0.00002
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)	rs113993996	0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)	rs774976459	0.00001
NM_016038.4(SBDS):c.120del (p.Ser41fs)	rs113993990
NM_016038.4(SBDS):c.160dup (p.His54fs)
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)	rs745661722
NM_016038.4(SBDS):c.40A>G (p.Asn14Asp)

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