ClinVar Miner

List of variants studied for Kostmann syndrome by Baylor Genetics

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Total variants: 3
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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.680G>T (p.Arg227Leu) rs747372275 0.00001
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter) rs1398108109

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