List of variants studied for constitutional neutropenia by GenomeConnect - Invitae Patient Insights Network

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003664.5(AP3B1):c.3131+5G>T	rs191616060	0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)	rs181625846	0.00053
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala)	rs151337641	0.00019
NM_138387.4(G6PC3):c.727G>A (p.Val243Met)	rs140785361	0.00008
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile)	rs200519753	0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)	rs371500701	0.00006
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.2317G>A (p.Val773Met)
NM_000081.4(LYST):c.6833A>G (p.Tyr2278Cys)
NM_005263.5(GFI1):c.79C>T (p.Leu27Phe)	rs1658376438

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