ClinVar Miner

List of variants reported as pathogenic for Kostmann syndrome by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.91del (p.Glu31fs)	rs764082747	0.00026
NM_006118.4(HAX1):c.125dup (p.Ser43fs)	rs745666437
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337

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