List of variants reported as pathogenic for Kostmann syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.91del (p.Glu31fs)	rs764082747	0.00026
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)	rs121908165	0.00002
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter)	rs374758765	0.00001
NM_006118.4(HAX1):c.407del (p.His136fs)	rs748595772	0.00001
NC_000001.10:g.(?_153963273)_(154580482_?)del
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)	rs2524930480
NM_006118.4(HAX1):c.109G>T (p.Glu37Ter)	rs201707963
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)	rs2524924329
NM_006118.4(HAX1):c.125dup (p.Ser43fs)	rs745666437
NM_006118.4(HAX1):c.146del (p.Pro49fs)	rs2149139668
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)	rs2524931096
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)	rs1334392544
NM_006118.4(HAX1):c.166del (p.His56fs)	rs2149139706
NM_006118.4(HAX1):c.16del (p.Leu6fs)	rs2524924407
NM_006118.4(HAX1):c.173del (p.Pro58fs)	rs758657008
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs)	rs2149139793
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)	rs2524932526
NM_006118.4(HAX1):c.235_236del (p.Phe79fs)	rs2149139817
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)	rs2524933144
NM_006118.4(HAX1):c.339_340del (p.Glu113fs)
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter)	rs1487742962
NM_006118.4(HAX1):c.368_381del (p.Gln123fs)	rs1425877227
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337
NM_006118.4(HAX1):c.432del (p.Leu145fs)	rs2524934196
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)	rs2524924781
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter)	rs1392118289
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter)	rs2149140056
NM_006118.4(HAX1):c.505-1G>C	rs1684899990
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)	rs2524937073
NM_006118.4(HAX1):c.556+1del	rs2149140495
NM_006118.4(HAX1):c.58dup (p.Arg20fs)	rs2149139493
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)	rs2524930259

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