List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as pathogenic for Heinz body anemia

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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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
NC_000011.10:g.5227100T>C	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.93-21G>A	rs35004220	0.00009
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
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
NC_000011.10:g.5227172G>A	rs63751208	0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs)	rs35662066	0.00003
NM_000518.5(HBB):c.20del (p.Glu7fs)	rs63749819	0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	rs33986703	0.00002
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_000518.4(HBB):c.86T>A (p.Leu29Gln)	rs33916412
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.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.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.27dup (p.Ser10fs)	rs35699606
NM_000518.5(HBB):c.295G>A (p.Val99Met)	rs33933298
NM_000518.5(HBB):c.92+1G>T	rs33971440

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