List of variants reported as likely pathogenic for Kostmann syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.317-2A>G	rs371504152	0.00007
NM_006118.4(HAX1):c.407del (p.His136fs)	rs748595772	0.00001
NM_006118.4(HAX1):c.663+1G>A	rs41313932	0.00001
NM_006118.4(HAX1):c.556+1_556+2dup
NM_006118.4(HAX1):c.57_58del (p.His19fs)
NM_006118.4(HAX1):c.663+1G>C

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