ClinVar Miner

List of variants reported as pathogenic for beta-thalassemia HBB/LCRB by Counsyl

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-151C>T rs63751208
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+5G>T rs33915217

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.