ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 75
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HGVS dbSNP
NC_000011.10:g.5225438T>C rs1589891018
NC_000011.10:g.5225460A>C rs560643693
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>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_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*111A>G rs63751128
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.*25C>G rs755997419
NM_000518.5(HBB):c.*48T>C rs759337708
NM_000518.5(HBB):c.*62A>G rs1046868746
NM_000518.5(HBB):c.*93A>T rs901033731
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.315+14_315+15insGG
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-107G>C rs930802593
NM_000518.5(HBB):c.316-113_316-103del
NM_000518.5(HBB):c.316-114C>A rs1003790835
NM_000518.5(HBB):c.316-124A>T rs1184042209
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.316-138G>A rs1444028845
NM_000518.5(HBB):c.316-138G>T rs1444028845
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-156T>C rs1164871363
NM_000518.5(HBB):c.316-177A>G rs964085975
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.316-184T>C rs193922557
NM_000518.5(HBB):c.316-189A>G rs1034207896
NM_000518.5(HBB):c.316-19T>A rs191535077
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-210T>A
NM_000518.5(HBB):c.316-290_316-274del rs1589891826
NM_000518.5(HBB):c.316-292del rs1170203019
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-332_316-328del rs1589891861
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>A rs34483965
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-96G>C rs193922561
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
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>C (p.Val110Leu) rs33969677
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.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.351T>A (p.His117Gln) rs35209776
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.378A>T (p.Pro126=) rs1554917555
NM_000518.5(HBB):c.378_379del (p.Val127fs)
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.387_389del (p.Ala130del) rs1554917536
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.393T>A (p.Tyr131Ter) rs281864530
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.427G>A (p.Ala143Thr) rs33931806
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427

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