List of variants studied for Kostmann syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.91del (p.Glu31fs)	rs764082747	0.00026
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)	rs138296453	0.00018
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)	rs146152769	0.00016
NM_006118.4(HAX1):c.317-2A>G	rs371504152	0.00009
NM_006118.4(HAX1):c.122G>T (p.Gly41Val)	rs369987963	0.00006
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)	rs780614125	0.00002
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.125dup (p.Ser43fs)	rs745666437
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)	rs1572018284
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337
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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