ClinVar Miner

List of variants studied for Heinz body anemia

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 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_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_000518.5(HBB):c.-151C>T 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
NM_000517.6(HBA2):c.*92A>G rs63750067 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
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
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
NM_000517.4(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.199C>A (p.Leu67Met) rs1280121011
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln) rs41323248
NM_000517.6(HBA2):c.200T>G (p.Leu67Arg) rs41323248
NM_000517.6(HBA2):c.203C>T (p.Thr68Ile) rs2142017990
NM_000517.6(HBA2):c.210_211insT (p.Val71fs) rs2142018005
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile) rs281864488
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
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.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
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.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477

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