ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 65
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HGVS dbSNP
NC_000011.10:g.5225416C>T rs113969885
NC_000011.10:g.5225460A>C rs560643693
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.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415
NM_000518.5(HBB):c.*104G>A rs1564873881
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*132+101G>C rs12788013
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*74A>G
NM_000518.5(HBB):c.*78T>C rs1554917435
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+16G>C rs10768683
NM_000518.5(HBB):c.315+26T>G rs368604295
NM_000518.5(HBB):c.315+70G>C rs373152208
NM_000518.5(HBB):c.315+73A>G
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.316-12T>C rs781604042
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-19T>A rs191535077
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-28G>A rs771736852
NM_000518.5(HBB):c.316-2A>G rs33914668
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.316-70C>G rs193922560
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.316-82G>A rs944935116
NM_000518.5(HBB):c.316-90A>G
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.341T>A (p.Val114Glu) rs34484056
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.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
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.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167

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