List of variants in gene HBB, LOC106099062, LOC107133510, LOC110006319 studied for hematologic disorder

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.315+1G>A	rs33945777	0.00003
NM_000518.5(HBB):c.309C>A (p.Asn103Lys)	rs34227486	0.00001
NC_000011.10:g.5224303_5227790del
NC_000011.10:g.5225158_5227199del2042insCTTAT
NC_000011.10:g.5225895_5227411del1517insT
NC_000011.10:g.5226164_5227556del
NC_000011.10:g.5226452_5228055del
NM_000518.4(HBB):c.302C>T (p.Pro101Leu)	rs33965000
NM_000518.4(HBB):c.304G>A (p.Glu102Lys)	rs33966487
NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe)	rs63750556
NM_000518.5(HBB):c.305A>G (p.Glu102Gly)	rs33937393
NM_000518.5(HBB):c.306G>C (p.Glu102Asp)	rs35209591
NM_000518.5(HBB):c.312C>G (p.Phe104Leu)	rs35067717
NM_000518.5(HBB):c.315+1G>C	rs33945777
NM_000518.5(HBB):c.315+1G>T	rs33945777
NM_000518.5(HBB):c.315+1del	rs63750774
NM_000518.5(HBB):c.315+2T>C	rs63750283
NM_000518.5(HBB):c.315+2T>G	rs63750283
NM_000518.5(HBB):c.315+2del	rs1564874813
NM_000518.5(HBB):c.315+4_315+5del	rs34750035
NM_000518.5(HBB):c.315+5G>C	rs35099082

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