List of variants in gene SBDS reported as pathogenic for hematologic disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_016038.4(SBDS):c.258+1G>C	rs113993992	0.00002
NM_016038.4(SBDS):c.13del (p.Thr5fs)	rs772797192	0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)	rs113993998	0.00001
NM_016038.4(SBDS):c.107del (p.Val36fs)
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.18del (p.Thr7fs)	rs1584439050
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)	rs113993994
NM_016038.4(SBDS):c.307_308del (p.Gln103fs)

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