ClinVar Miner

List of variants studied for Kostmann syndrome by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp)	rs765538745	0.00004
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter)	rs1398108109

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