List of variants reported as pathogenic for hereditary persistence of fetal hemoglobin-sickle cell disease syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00009
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000518.5(HBB):c.-137C>A	rs33941377	0.00004
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	rs33986703	0.00002
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_000159.4(GCDH):c.91+5G>T	rs952356983

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