List of variants reported as pathogenic for Hereditary persistence of fetal hemoglobin

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000559.3(HBG1):c.-29G>A	rs368698783	0.15026
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NC_000011.10:g.5255348A>C	rs866138115	0.00025
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NC_000011.10:g.5250053G>A	rs35983258	0.00002
NC_000011.10:g.5249971G>A	rs281860601	0.00001
NC_000011.10:g.5254956A>G	rs63750654	0.00001
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
HBB, 106-KB DEL
NC_000011.10:g.5249974C>T	rs35378915
NC_000011.10:g.5250015G>A	rs1554921759
NC_000011.10:g.5250052G>C	rs35321913
NC_000011.10:g.5250055A>G	rs35710727
NC_000011.10:g.5254895G>A	rs34809449
NC_000011.10:g.5254895G>T	rs34809449
NC_000011.10:g.5254983G>C	rs35617911
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821

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