List of variants studied for Pelger-Huet anomaly

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_002296.4(LBR):c.461G>A (p.Ser154Asn)	rs2230419	0.72194
NM_002296.4(LBR):c.117G>A (p.Val39=)	rs1056607	0.71598
NM_002296.4(LBR):c.261T>C (p.Pro87=)	rs1056608	0.68333
NM_002296.4(LBR):c.843A>G (p.Val281=)	rs61749339	0.01280
NM_002296.4(LBR):c.1315-13T>C	rs201793983	0.00041
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)	rs1057516045	0.00002
NM_002296.4(LBR):c.1757G>A (p.Arg586His)	rs573510559	0.00002
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)	rs377110126	0.00001
NM_002296.4(LBR):c.860T>C (p.Ile287Thr)	rs201093644	0.00001
NM_002296.4(LBR):c.1484-9A>G
NM_002296.4(LBR):c.1565-10_1565-5del	rs886037616
NM_002296.4(LBR):c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer)	rs387906416
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp)	rs587777171
NM_002296.4(LBR):c.166-12C>T
NM_002296.4(LBR):c.166-2A>G
NM_002296.4(LBR):c.1706C>G (p.Pro569Arg)
NM_002296.4(LBR):c.235C>T (p.Arg79Ter)
NM_002296.4(LBR):c.32_35del (p.Val11fs)	rs863223326
NM_002296.4(LBR):c.356C>T (p.Pro119Leu)

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