ClinVar Miner

List of variants reported as uncertain significance for Kostmann syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp)	rs200890522	0.00007
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del)	rs560912060

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