ClinVar Miner

List of variants reported as likely pathogenic for Severe congenital neutropenia by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)	rs756667927	0.00001
NM_000760.4(CSF3R):c.1576+1G>A	rs1031224658

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