ClinVar Miner

List of variants reported as likely pathogenic for Kostmann syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.314del (p.Pro105fs)	rs2524933144
NM_006118.4(HAX1):c.463dup (p.Gln155fs)	rs1572018886
NM_006118.4(HAX1):c.607dup (p.Gln203fs)

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