List of variants reported as likely benign for Kostmann syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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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.593C>T (p.Pro198Leu)	rs146152769	0.00016
NM_006118.4(HAX1):c.505-4G>A	rs186219647	0.00010
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)	rs139205111	0.00007
NM_006118.4(HAX1):c.411G>A (p.Gln137=)	rs766622654	0.00002
NM_006118.4(HAX1):c.505-9C>T	rs779604569	0.00001
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del)	rs753894148
NM_006118.4(HAX1):c.18C>G (p.Leu6=)	rs375735851
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys)	rs114883767

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