ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as pathogenic for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) rs34948328
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.8A>C (p.His3Pro) rs33983205
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071

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.