ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as uncertain significance

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Total variants: 94
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HGVS dbSNP
NC_000011.10:g.5225438T>C rs1589891018
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>A (p.Pro125Gln) 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.422C>A (p.Ala141Asp) rs33927093
NM_000518.5(HBB):c.*102C>T rs1554917429
NM_000518.5(HBB):c.*104G>A rs1564873881
NM_000518.5(HBB):c.*115A>C rs1554917417
NM_000518.5(HBB):c.*116dup rs281864532
NM_000518.5(HBB):c.*129T>A rs528009939
NM_000518.5(HBB):c.*132C>T rs1420779550
NM_000518.5(HBB):c.*18C>A
NM_000518.5(HBB):c.*25C>G rs755997419
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.*53C>A rs886048393
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G
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.*73T>C rs1265505530
NM_000518.5(HBB):c.*74A>G
NM_000518.5(HBB):c.*78T>C rs1554917435
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+14_315+15insGG
NM_000518.5(HBB):c.315+73A>G
NM_000518.5(HBB):c.315+9A>G
NM_000518.5(HBB):c.316-102C>A rs1468940510
NM_000518.5(HBB):c.316-107G>C rs930802593
NM_000518.5(HBB):c.316-109C>T rs1554917650
NM_000518.5(HBB):c.316-113_316-103del
NM_000518.5(HBB):c.316-114C>A rs1003790835
NM_000518.5(HBB):c.316-114C>T rs1003790835
NM_000518.5(HBB):c.316-124A>T rs1184042209
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.316-156T>C rs1164871363
NM_000518.5(HBB):c.316-171_316-170del rs1564874493
NM_000518.5(HBB):c.316-177A>G rs964085975
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.316-189A>G rs1034207896
NM_000518.5(HBB):c.316-192G>A rs1564874512
NM_000518.5(HBB):c.316-198G>A
NM_000518.5(HBB):c.316-19T>A rs191535077
NM_000518.5(HBB):c.316-210T>A
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-28G>C rs771736852
NM_000518.5(HBB):c.316-290_316-274del rs1589891826
NM_000518.5(HBB):c.316-292del rs1170203019
NM_000518.5(HBB):c.316-30A>C rs193922558
NM_000518.5(HBB):c.316-332_316-328del rs1589891861
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_000518.5(HBB):c.316-46G>A rs1554917642
NM_000518.5(HBB):c.316-60C>T
NM_000518.5(HBB):c.316-7C>A rs34483965
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.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.319C>G (p.Leu107Val)
NM_000518.5(HBB):c.323G>T (p.Gly108Val) rs35519485
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.333G>A (p.Leu111=) rs1215164743
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056
NM_000518.5(HBB):c.351T>A (p.His117Gln) rs35209776
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.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391
NM_000518.5(HBB):c.384G>C (p.Gln128His)
NM_000518.5(HBB):c.387T>A (p.Ala129=)
NM_000518.5(HBB):c.387_389del (p.Ala130del) rs1554917536
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.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.427G>A (p.Ala143Thr) rs33931806

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