ClinVar Miner

Variants in gene combination HBB, LOC107133510, LOC110006319 with conflicting interpretations reported as "uncertain significance and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 49
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
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.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.316-189A>G rs1034207896 0.00006
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.316-81T>A rs911937119 0.00004
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-177A>G rs964085975 0.00003
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
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.*74A>G rs369101035 0.00001
NM_000518.5(HBB):c.316-102C>A rs1468940510 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.316-130T>C rs956857115 0.00001
NM_000518.5(HBB):c.316-138G>A rs1444028845 0.00001
NM_000518.5(HBB):c.316-145G>A rs1005042281 0.00001
NM_000518.5(HBB):c.316-156T>C rs1164871363 0.00001
NM_000518.5(HBB):c.316-99T>G rs1232651664 0.00001
NM_000518.5(HBB):c.333G>A (p.Leu111=) rs1215164743 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_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.315+9A>G rs1277597344
NM_000518.5(HBB):c.316-100T>A rs1847534694
NM_000518.5(HBB):c.316-109C>T rs1554917650
NM_000518.5(HBB):c.316-114C>T rs1003790835
NM_000518.5(HBB):c.316-128G>C rs1291160651
NM_000518.5(HBB):c.316-141G>A rs1011427406
NM_000518.5(HBB):c.316-148G>C rs1847536038
NM_000518.5(HBB):c.316-179A>T
NM_000518.5(HBB):c.316-198G>A rs547258651
NM_000518.5(HBB):c.316-210T>A rs1847537565
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-28G>C rs771736852
NM_000518.5(HBB):c.316-336del rs1251286087
NM_000518.5(HBB):c.316-42del rs746631999
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-85A>G rs1847534399
NM_000518.5(HBB):c.316-96G>A rs193922561
NM_000518.5(HBB):c.316-99del rs1257175417
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

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