ClinVar Miner

List of variants in gene HBB, LOC107133510, LOC110006319 studied for beta-thalassemia HBB/LCRB

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NC_000011.10:g.5225416C>T rs113969885
NG_000007.3(HBB):g.71609_72227del
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.383A>G (p.Gln128Arg) rs33910569
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.5(HBB):c.*108A>G
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*110_*114del rs35949130
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*115_*116del
NM_000518.5(HBB):c.*132+101G>C rs12788013
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000518.5(HBB):c.*18C>A
NM_000518.5(HBB):c.*32A>C
NM_000518.5(HBB):c.*53C>A rs886048393
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.*93_*105del
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.315+255T>C
NM_000518.5(HBB):c.315+74T>G rs7480526
NM_000518.5(HBB):c.315+81C>T rs7946748
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-125A>G rs63751175
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.316-184T>C rs193922557
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.316-197C>T rs34451549
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
NM_000518.5(HBB):c.316-202del
NM_000518.5(HBB):c.316-208C>G
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-272G>C rs773343845
NM_000518.5(HBB):c.316-272G>T
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_000518.5(HBB):c.316-373C>A rs78815705
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.316-7C>A rs34483965
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
NM_000518.5(HBB):c.319C>G (p.Leu107Val)
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.339T>A (p.Cys113Ter)
NM_000518.5(HBB):c.339_345dup (p.Ala116fs)
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)
NM_000518.5(HBB):c.354del (p.Phe119fs)
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.375dup (p.Pro126fs)
NM_000518.5(HBB):c.378del (p.Val127fs)
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.394C>T (p.Gln132Ter)
NM_000518.5(HBB):c.395dup (p.Lys133fs)
NM_000518.5(HBB):c.397A>T (p.Lys133Ter)
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.417dup (p.Asn140Ter)
NM_000518.5(HBB):c.429_430del (p.His144fs)
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]

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