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

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: 16

Download table as spreadsheet

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_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe)	rs63750556
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.