List of variants in gene SMARCD2 reported as pathogenic for Specific granule deficiency 1; Autosomal recessive severe congenital neutropenia

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001098426.2(SMARCD2):c.1181+1G>A	rs1057518731
NM_001098426.2(SMARCD2):c.401+2T>C	rs1057518733
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer)	rs1555580263

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