ClinVar Miner

List of variants in gene HBB, LOC107133510, LOC110006319 studied for beta Thalassemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NC_000011.10:g.5225365C>G rs12788013 0.10429
NM_000518.5(HBB):c.316-373C>A rs78815705 0.02031
NC_000011.10:g.5225416C>T rs113969885 0.01596
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.315+26T>G rs368604295 0.00234
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000518.5(HBB):c.316-272G>C rs773343845 0.00006
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.316-150C>G rs193922556 0.00002
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.*18C>A rs1348310843 0.00001
NM_000518.5(HBB):c.*53C>A rs886048393 0.00001
NM_000518.5(HBB):c.316-238C>T rs558554234 0.00001
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751 0.00001
NC_000011.10:g.5218346_5226066del
NC_000011.10:g.5225255_5225875del
NC_000011.10:g.5225432G>T rs1277208445
NM_000518.4(HBB):c.316-281_*209del619 rs1847516043
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.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) rs33910569
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
NM_000518.5(HBB):c.*108A>G rs1847518799
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*110_*114del rs35949130
NM_000518.5(HBB):c.*112A>G rs63750954
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*115_*116del rs281864532
NM_000518.5(HBB):c.*32A>C rs1847520793
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G rs1345009528
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.*93_*105del rs34171453
NM_000518.5(HBB):c.315+255T>C rs1847544780
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>C rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-1del rs63750692
NM_000518.5(HBB):c.316-202del rs1847537515
NM_000518.5(HBB):c.316-208C>G rs1847537539
NM_000518.5(HBB):c.316-272G>T rs773343845
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000518.5(HBB):c.316-98_316-86dup rs1847534434
NM_000518.5(HBB):c.319C>G (p.Leu107Val) rs63750596
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.339T>A (p.Cys113Ter) rs33930977
NM_000518.5(HBB):c.339_345dup (p.Ala116fs) rs281864527
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.348_349delinsG (p.His117fs)
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) rs63751306
NM_000518.5(HBB):c.354del (p.Phe119fs) rs281864528
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.373C>A (p.Pro125Thr) rs35461710
NM_000518.5(HBB):c.375dup (p.Pro126fs) rs281864544
NM_000518.5(HBB):c.378del (p.Val127fs) rs34363638
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.380_396del (p.Val127fs) rs750606223
NM_000518.5(HBB):c.387T>A (p.Ala129=) rs1248780802
NM_000518.5(HBB):c.394C>T (p.Gln132Ter) rs33910209
NM_000518.5(HBB):c.395dup (p.Lys133fs) rs281864531
NM_000518.5(HBB):c.397A>T (p.Lys133Ter) rs33953406
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.417dup (p.Asn140Ter) rs1847523960
NM_000518.5(HBB):c.429_430del (p.His144fs) rs281864497
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]

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.