List of variants studied for autosomal dominant severe congenital neutropenia by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005263.5(GFI1):c.792C>T (p.Phe264=)	rs114487177	0.00276
NM_001972.4(ELANE):c.431G>A (p.Arg144His)	rs142441575	0.00020
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)	rs201421847	0.00011
NM_005263.5(GFI1):c.733T>C (p.Cys245Arg)	rs775151292	0.00004
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr)	rs770306507	0.00002
NM_001972.4(ELANE):c.662G>T (p.Gly221Val)	rs756112245	0.00001
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)	rs137854448
NM_001972.4(ELANE):c.619G>C (p.Val207Leu)	rs2035674003
NM_005263.5(GFI1):c.925-40CT[15]	rs35896485
NM_005263.5(GFI1):c.925-40CT[19]	rs35896485
NM_005263.5(GFI1):c.925-40CT[21]	rs35896485

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