ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP
NC_000011.9:g.5246486_5247105delinsTCTACTT
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
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.374C>G (p.Pro125Arg) rs33983276
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
NM_000518.5(HBB):c.*102C>T rs1554917429
NM_000518.5(HBB):c.*104G>A rs1564873881
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*115A>C rs1554917417
NM_000518.5(HBB):c.*116dup rs281864532
NM_000518.5(HBB):c.*33G>T rs1364427740
NM_000518.5(HBB):c.*47C>G
NM_000518.5(HBB):c.*47C>T
NM_000518.5(HBB):c.*48T>C rs759337708
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*62A>G rs1046868746
NM_000518.5(HBB):c.*65C>G rs1490059160
NM_000518.5(HBB):c.*67G>T rs1554917441
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.*73T>C rs1265505530
NM_000518.5(HBB):c.*74A>G
NM_000518.5(HBB):c.*91G>A rs193922549
NM_000518.5(HBB):c.*93A>T rs901033731
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.*97G>C rs770911771
NM_000518.5(HBB):c.315+9A>G
NM_000518.5(HBB):c.316-102C>A rs1468940510
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-109C>T rs1554917650
NM_000518.5(HBB):c.316-114C>A rs1003790835
NM_000518.5(HBB):c.316-114C>T rs1003790835
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.316-128G>C rs1291160651
NM_000518.5(HBB):c.316-130T>C rs956857115
NM_000518.5(HBB):c.316-138G>A rs1444028845
NM_000518.5(HBB):c.316-145G>A rs1005042281
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-150C>G rs193922556
NM_000518.5(HBB):c.316-171_316-170del rs1564874493
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.316-184T>C rs193922557
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.316-189A>G rs1034207896
NM_000518.5(HBB):c.316-192G>A rs1564874512
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-198G>A
NM_000518.5(HBB):c.316-19T>A rs191535077
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-28G>C rs771736852
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-30A>C rs193922558
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-46G>A rs1554917642
NM_000518.5(HBB):c.316-60C>T
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-81T>A
NM_000518.5(HBB):c.316-85A>G
NM_000518.5(HBB):c.316-96G>A rs193922561
NM_000518.5(HBB):c.316-96G>C rs193922561
NM_000518.5(HBB):c.316-99del
NM_000518.5(HBB):c.323G>T (p.Gly108Val) rs35519485
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.351T>C (p.His117=)
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
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.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.396_397del (p.Lys133fs)
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) rs33949869
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427

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.