List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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_000518.4(HBB):c.332T>C (p.Leu111Pro)	rs35256489	0.00002
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA	rs1847513733
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.4(HBB):c.422C>T (p.Ala141Val)	rs33927093
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
NM_000518.5(HBB):c.*113A>G	rs33985472
NM_000518.5(HBB):c.*6C>G	rs34809925
NM_000518.5(HBB):c.316-146T>G	rs35328027
NM_000518.5(HBB):c.316-14T>G	rs35703285
NM_000518.5(HBB):c.316-2A>C	rs33914668
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.323dup (p.Asn109fs)	rs35225141
NM_000518.5(HBB):c.328G>A (p.Val110Met)	rs33969677
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000518.5(HBB):c.345_348dup (p.His117fs)
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.371_378del (p.Thr124fs)	rs1554917561
NM_000518.5(HBB):c.380T>G (p.Val127Gly)	rs33925391
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn)	rs33949869

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.