ClinVar Miner

List of variants studied for Beta-thalassemia HBB/LCRB

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01288
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00041
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00025
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00025
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606 0.00011
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00010
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000518.5(HBB):c.-140C>T rs34999973 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.5(HBB):c.*104G>A rs1564873881 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00001
NM_000518.5(HBB):c.93-1G>C rs33943001 0.00001
NC_000011.10:g.5168748_5240702del
NC_000011.10:g.5227157G>C rs33994806
NM_000518.4(HBB):c.-124A>T rs2494297664
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.105_106insCTAC (p.Tyr36fs)
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.138del (p.Phe46fs) rs35133315
NM_000518.5(HBB):c.161C>T (p.Ala54Val)
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.279C>G (p.His93Gln) rs34083951
NM_000518.5(HBB):c.299_315dup (p.Leu106fs)
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.385G>A (p.Ala129Thr) rs34139813
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) rs35699671
Single allele

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