ClinVar Miner

List of variants studied for Hereditary persistence of fetal hemoglobin

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NC_000011.10:g.5254939G>A rs7482144 0.20740
NM_000559.3(HBG1):c.-29G>A rs368698783 0.15026
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000559.3(HBG1):c.410C>G (p.Ala137Gly) rs56205611 0.00681
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
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) rs34427034 0.00004
NM_000559.3(HBG1):c.377A>C (p.Glu126Ala) rs770330940 0.00004
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.5249973T>A
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
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) rs35977759
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) rs33974602
NM_000559.3(HBG1):c.*3T>C rs62755960
NM_000559.3(HBG1):c.*4C>T rs61893083
NM_000559.3(HBG1):c.*5A>C rs1065686
NM_000559.3(HBG1):c.*6C>T rs5009539
NM_000559.3(HBG1):c.14C>G (p.Thr5Arg) rs2133609307
NM_000559.3(HBG1):c.190C>T (p.His64Tyr)
NM_000559.3(HBG1):c.217G>A (p.Gly73Arg) rs34049890

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