ClinVar Miner

List of variants reported as pathogenic for Kostmann syndrome

Included ClinVar conditions (1):
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Total variants: 36
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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.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)
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006118.4(HAX1):c.146del (p.Pro49fs) rs2149139668
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
NM_006118.4(HAX1):c.166del (p.His56fs) rs2149139706
NM_006118.4(HAX1):c.16del (p.Leu6fs)
NM_006118.4(HAX1):c.173del (p.Pro58fs)
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer) rs758657008
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs) rs2149139793
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
NM_006118.4(HAX1):c.235_236del (p.Phe79fs) rs2149139817
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
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.372_373insGATA (p.Leu125fs) rs2149139969
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.432del (p.Leu145fs)
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
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
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
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)

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