List of variants studied for constitutional neutropenia by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)	rs139344924	0.00669
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)	rs115330112	0.00485
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)	rs62001052	0.00398
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)	rs115892142	0.00200
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)	rs80338645
NM_000081.4(LYST):c.2413del (p.Glu805fs)	rs80338647
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)	rs1281729528
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
NM_001972.4(ELANE):c.322G>C (p.Gly108Arg)	rs1221333968
NM_001972.4(ELANE):c.367C>G (p.Leu123Val)	rs2035663521
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)	rs111935323

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