ClinVar Miner

List of variants reported as pathogenic for Heinz body anemia

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
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_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000517.6(HBA2):c.210_211insT (p.Val71fs) rs2142018005
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
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.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364

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