List of variants reported as likely pathogenic for constitutional neutropenia by Revvity Omics, Revvity

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)	rs140353201	0.00002
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)	rs780598553	0.00001
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_003664.5(AP3B1):c.280-2A>G
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)	rs1847921335
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)	rs1371736348
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)	rs773094891
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)	rs2132556658
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter)	rs1554645551
NM_152564.5(VPS13B):c.292-2A>G	rs386834079
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter)	rs1588491546
NM_152564.5(VPS13B):c.4950-2A>G
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs)	rs2130858031
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs)	rs2130865566

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