List of variants reported as likely pathogenic for Kostmann syndrome by Invitae

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.317-2A>G	rs371504152	0.00009
NM_006118.4(HAX1):c.663+1G>A	rs41313932	0.00001
NC_000001.10:g.(?_154246017)_(154247306_?)del
NC_000001.11:g.(?_154274930)_(154275721_?)del
NM_006118.4(HAX1):c.504+1G>A	rs2149140065
NM_006118.4(HAX1):c.54-2A>T	rs764765550
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C	rs1684901295
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C	rs1684904805
NM_006118.4(HAX1):c.664-1G>T	rs2149140690

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