List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as pathogenic for Hb SS disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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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
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
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.20del (p.Glu7fs)	rs63749819	0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	rs33986703	0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	rs35424040	0.00002
NM_000518.5(HBB):c.-78A>G	rs33931746	0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs)	rs35497102	0.00001
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_000518.4(HBB):c.-137C>T	rs33941377
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
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.130G>T (p.Glu44Ter)	rs33922842
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606
NM_000518.5(HBB):c.2T>G (p.Met1Arg)	rs33941849
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	rs63750783
NM_000518.5(HBB):c.85dup (p.Leu29fs)	rs35532010
NM_000518.5(HBB):c.92+1G>T	rs33971440

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