List of variants reported as pathogenic for functional neutrophil defect by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)	rs137852614	0.00002
NM_000250.2(MPO):c.403C>T (p.Arg135Ter)	rs181494077	0.00001
NM_000250.2(MPO):c.721C>T (p.Gln241Ter)	rs754632893	0.00001
NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	rs536522394
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)	rs587777655

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