List of variants reported as pathogenic for Kostmann syndrome by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.91del (p.Glu31fs)	rs764082747	0.00026
NM_006118.4(HAX1):c.568C>T (p.Gln190Ter)	rs74315322	0.00004
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)	rs121908165	0.00002
NM_006118.4(HAX1):c.125dup (p.Ser43fs)	rs745666437
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)	rs1572018284
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer)	rs758657008
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337

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