ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as uncertain significance for not provided

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Total variants: 46
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HGVS dbSNP
NC_000011.10:g.5225438T>C rs1589891018
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.*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.*25C>G rs755997419
NM_000518.5(HBB):c.*48T>C rs759337708
NM_000518.5(HBB):c.*62A>G rs1046868746
NM_000518.5(HBB):c.*67G>T rs1554917441
NM_000518.5(HBB):c.*93A>T rs901033731
NM_000518.5(HBB):c.315+14_315+15insGG
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.316-138G>A rs1444028845
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.316-189A>G rs1034207896
NM_000518.5(HBB):c.316-19T>A rs191535077
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.316-332_316-328del rs1589891861
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.319C>G (p.Leu107Val)
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.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.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.427G>A (p.Ala143Thr) rs33931806

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