List of variants studied for anemia by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.93-23T>C	rs111851677	0.00593
NM_000518.5(HBB):c.316-179A>C	rs185607297	0.00009
NM_000518.5(HBB):c.-151C>T	rs63751208	0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs)	rs35662066	0.00003
NM_000518.5(HBB):c.93-40C>T	rs556727592	0.00002
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.4(HBB):c.-92C>G	rs397515291
NM_000518.4(HBB):c.269G>A (p.Ser90Asn)	rs33917628
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
NM_000518.5(HBB):c.-81A>G	rs33981098
NM_000518.5(HBB):c.33C>A (p.Ala11=)	rs35799536
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391
NM_000518.5(HBB):c.4G>A (p.Val2Met)	rs33958358
NM_000518.5(HBB):c.90C>T (p.Gly30=)	rs35578002
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)	rs1057518042

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.