ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 studied for beta Thalassemia

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Total variants: 91
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HGVS dbSNP
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.287dupA (p.Leu97Alafs) rs34937014
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-133G>A rs72561473
NM_000518.5(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-137C>T rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-140C>T rs34999973
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-151C>T rs63751208
NM_000518.5(HBB):c.-15C>A rs193922550
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-41del rs35352549
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-51T>C rs386134236
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.-80T>A rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.0_92+25del rs1564875707
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.117_118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) rs1564875331
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.91A>C (p.Arg31=)
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+2T>C rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000518.5(HBB):c.93-21_96del rs63750223
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040

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