List of variants in gene combination HBB, LOC107133510, LOC110006319 studied for Hb SS disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.324C>T (p.Gly108=)	rs193922562	0.00029
NM_000518.5(HBB):c.389C>T (p.Ala130Val)	rs111645889	0.00007
NM_000518.5(HBB):c.*110T>C	rs33978907	0.00005
NM_000518.5(HBB):c.316-197C>T	rs34451549	0.00005
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.316-7C>A	rs34483965	0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	rs35256489	0.00002
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)	rs33949486	0.00001
NM_000518.5(HBB):c.*18C>A	rs1348310843	0.00001
NM_000518.5(HBB):c.*53C>A	rs886048393	0.00001
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.*56A>T	rs537944366
NM_000518.5(HBB):c.*59A>G	rs1345009528
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.402G>C (p.Val134=)	rs113082294

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