ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 studied for beta^0^ Thalassemia

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Total variants: 39
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HGVS dbSNP
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) rs63750099
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.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.194del (p.Gly65fs) rs36107977
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.216dup (p.Ser73Ter) rs1554917888
NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs) rs63751218
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.280_281TG[3] (p.Asp95fs) rs34533941
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.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.4del (p.Val2fs) rs63750475
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.79_80insT (p.Glu27fs) rs35477349
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-17_93-1del rs1554918032
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-22_95del rs193922563

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