List of variants studied for autosomal dominant severe congenital neutropenia by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001972.4(ELANE):c.214G>A (p.Val72Met)	rs387906553	0.00001
NM_001972.2(ELANE):c.[292G>T;301G>T]
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)	rs28931611
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)	rs137854450
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)	rs137854448
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)	rs137854451
NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)	rs28936381

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