List of variants studied for Kostmann syndrome by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)	rs781468690	0.00035
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)	rs755031266	0.00029
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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