ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 studied for not specified

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Total variants: 91
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HGVS dbSNP
NC_000011.10:g.5225416C>T rs113969885
NC_000011.10:g.5225460A>C rs560643693
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
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_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415
NM_000518.5(HBB):c.*102C>T rs1554917429
NM_000518.5(HBB):c.*104G>A rs1564873881
NM_000518.5(HBB):c.*116dup rs281864532
NM_000518.5(HBB):c.*132+101G>C rs12788013
NM_000518.5(HBB):c.*132+184A>C rs7110263
NM_000518.5(HBB):c.*132+221G>A rs112988270
NM_000518.5(HBB):c.*132+99T>C rs567259408
NM_000518.5(HBB):c.*132C>T rs1420779550
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.*56A>G rs537944366
NM_000518.5(HBB):c.*62A>G rs1046868746
NM_000518.5(HBB):c.*65C>G rs1490059160
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+16G>C rs10768683
NM_000518.5(HBB):c.315+70G>C rs373152208
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.316-114C>A rs1003790835
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.316-12T>C rs781604042
NM_000518.5(HBB):c.316-130T>C rs956857115
NM_000518.5(HBB):c.316-145G>A rs1005042281
NM_000518.5(HBB):c.316-146T>C rs35328027
NM_000518.5(HBB):c.316-146T>G rs35328027
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.316-184T>C rs193922557
NM_000518.5(HBB):c.316-185C>T rs1609812
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.316-238C>T rs558554234
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-28G>A rs771736852
NM_000518.5(HBB):c.316-28G>C rs771736852
NM_000518.5(HBB):c.316-30A>C rs193922558
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-46G>A rs1554917642
NM_000518.5(HBB):c.316-60C>T
NM_000518.5(HBB):c.316-70C>G rs193922560
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.323G>T (p.Gly108Val) rs35519485
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>A (p.Val110Met) rs33969677
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.351T>C (p.His117=)
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.378A>T (p.Pro126=) rs1554917555
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
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.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585

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