ClinVar Miner

List of variants studied for Kostmann syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.314del (p.Pro105fs)
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.622T>A (p.Phe208Ile)

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