ClinVar Miner

List of variants studied for hereditary persistence of fetal hemoglobin

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
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_000559.3(HBG1):c.410C>G (p.Ala137Gly) rs56205611 0.00681
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NC_000011.10:g.5227100T>C rs34598529 0.00091
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NC_000011.10:g.5255348A>C rs866138115 0.00025
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
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.5227172G>A rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NC_000011.10:g.5250053G>A rs35983258 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NC_000011.10:g.5249971G>A rs281860601 0.00001
NC_000011.10:g.5254956A>G rs63750654 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 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_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000518.5(HBB):c.92+1G>T rs33971440
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.217G>A (p.Gly73Arg) rs34049890

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