ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.316-96G>C rs193922561 0.00039
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.5(HBB):c.316-19T>A rs191535077 0.00027
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000518.5(HBB):c.*91G>A rs193922549 0.00008
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.316-189A>G rs1034207896 0.00006
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.316-177A>G rs964085975 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.*93A>T rs901033731 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.316-107G>C rs930802593 0.00001
NM_000518.5(HBB):c.316-114C>A rs1003790835 0.00001
NM_000518.5(HBB):c.316-124A>T rs1184042209 0.00001
NM_000518.5(HBB):c.316-156T>C rs1164871363 0.00001
NM_000518.5(HBB):c.333G>A (p.Leu111=) rs1215164743 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.4(HBB):c.*160A>G rs1589891018
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_000518.5(HBB):c.*112A>T
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.*16G>A
NM_000518.5(HBB):c.*25C>G rs755997419
NM_000518.5(HBB):c.*48T>C rs759337708
NM_000518.5(HBB):c.*4C>T
NM_000518.5(HBB):c.*57C>G
NM_000518.5(HBB):c.*5G>A
NM_000518.5(HBB):c.*78T>A
NM_000518.5(HBB):c.*83G>T rs2133585726
NM_000518.5(HBB):c.315+14_315+15insGG rs1847549331
NM_000518.5(HBB):c.316-100T>A rs1847534694
NM_000518.5(HBB):c.316-113_316-103del rs1489533338
NM_000518.5(HBB):c.316-148G>C rs1847536038
NM_000518.5(HBB):c.316-179A>T
NM_000518.5(HBB):c.316-210T>A rs1847537565
NM_000518.5(HBB):c.316-290_316-274del rs1589891826
NM_000518.5(HBB):c.316-308_316-304del rs1847539022
NM_000518.5(HBB):c.316-332_316-328del rs1589891861
NM_000518.5(HBB):c.316-336del rs1251286087
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-7C>T
NM_000518.5(HBB):c.316-85A>G rs1847534399
NM_000518.5(HBB):c.316-91del rs2133586557
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.319C>G (p.Leu107Val) rs63750596
NM_000518.5(HBB):c.351T>A (p.His117Gln) rs35209776
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.387_389del (p.Ala130del) rs1554917536
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.399A>T (p.Lys133Asn) rs33946775
NM_000518.5(HBB):c.425T>G (p.Leu142Arg) rs35854892
NM_000518.5(HBB):c.427G>A (p.Ala143Thr) rs33931806
NM_000518.5(HBB):c.433A>T (p.Lys145Ter) rs33964352

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