ClinVar Miner

List of variants in gene HBB, LOC106099062, LOC107133510 studied for not provided

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Gene type:
ClinVar version:
Total variants: 436
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.5227540G>A rs10742584 0.96393
NC_000011.10:g.5227411G>A rs10742583 0.83082
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NC_000011.10:g.5227562T>G rs74049330 0.09404
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000518.4(HBB):c.-133G>A rs72561473 0.00312
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.4(HBB):c.-51T>C rs386134236 0.00041
NM_000518.5(HBB):c.92+47T>G rs369341845 0.00040
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NC_000011.10:g.5227246C>T rs565478698 0.00034
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000518.4(HBB):c.-248A>G rs76306358 0.00031
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.207C>T (p.Leu69=) rs112287010 0.00016
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.5(HBB):c.92+4G>A rs1377832836 0.00008
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.92+26T>C rs1035809053 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955 0.00004
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.108C>T (p.Tyr36=) rs33982568 0.00003
NM_000518.5(HBB):c.33C>T (p.Ala11=) rs35799536 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000518.5(HBB):c.93-27C>T rs376272324 0.00003
NC_000011.10:g.5227261C>T rs753344875 0.00002
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336 0.00002
NM_000518.5(HBB):c.156T>C (p.Pro52=) rs762111851 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.173A>G (p.Asn58Ser) rs34589620 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) rs33916541 0.00002
NM_000518.5(HBB):c.41C>T (p.Ala14Val) rs35203747 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.92+28T>C rs565131043 0.00002
NM_000518.5(HBB):c.92+36C>A rs776904725 0.00002
NM_000518.5(HBB):c.92+39A>G rs372716225 0.00002
NM_000518.5(HBB):c.93-18C>T rs777028217 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
NM_000518.4(HBB):c.-104G>A rs1274149043 0.00001
NM_000518.4(HBB):c.-71G>A rs1554918264 0.00001
NM_000518.4(HBB):c.-83G>T rs1160543272 0.00001
NM_000518.4(HBB):c.149C>T (p.Ser50Phe) rs33960931 0.00001
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.4(HBB):c.83C>T (p.Ala28Val) rs33954632 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.-4C>T rs1035531758 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.159T>C (p.Asp53=) rs777114006 0.00001
NM_000518.5(HBB):c.165T>C (p.Val55=) rs760975738 0.00001
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551 0.00001
NM_000518.5(HBB):c.174C>T (p.Asn58=) rs35278874 0.00001
NM_000518.5(HBB):c.201A>G (p.Lys67=) rs36092904 0.00001
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.5(HBB):c.27G>A (p.Lys9=) rs35198910 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.5(HBB):c.60C>T (p.Asn20=) rs63750840 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.6G>T (p.Val2=) rs1349384278 0.00001
NM_000518.5(HBB):c.78T>G (p.Gly26=) rs373379910 0.00001
NM_000518.5(HBB):c.90C>A (p.Gly30=) rs35578002 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+37C>A rs372467642 0.00001
NM_000518.5(HBB):c.92+40T>C rs375672426 0.00001
NM_000518.5(HBB):c.92+45A>G rs773415134 0.00001
NM_000518.5(HBB):c.92+48G>A rs372778054 0.00001
NM_000518.5(HBB):c.92+53T>C rs1847576718 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000518.5(HBB):c.92+61C>T rs747160822 0.00001
NM_000518.5(HBB):c.93-15T>C rs35456885 0.00001
NM_000518.5(HBB):c.93-24A>G rs773687221 0.00001
NM_000518.5(HBB):c.93-28G>C rs1564875652 0.00001
NM_000518.5(HBB):c.93-34C>G rs763696976 0.00001
NM_000518.5(HBB):c.93-46T>C rs373538213 0.00001
NM_000518.5(HBB):c.96G>T (p.Leu32=) rs778841729 0.00001
NC_000011.10:g.5226755_5227283del
NC_000011.10:g.5226995_5227524del
NC_000011.10:g.5227114G>T rs375421674
NC_000011.10:g.5227134T>C rs1354742084
NC_000011.10:g.5227197G>A
NC_000011.10:g.5227294=
NM_000518.4(HBB):c.-102G>T rs1554918277
NM_000518.4(HBB):c.-106G>A
NM_000518.4(HBB):c.-121C>T rs281864518
NM_000518.4(HBB):c.-122T>G rs1272414751
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-137C>T rs33941377
NM_000518.4(HBB):c.-137_-136insG
NM_000518.4(HBB):c.-138C>G rs33944208
NM_000518.4(HBB):c.-150T>A rs1448799110
NM_000518.4(HBB):c.-265G>A rs2133590008
NM_000518.4(HBB):c.-69G>A rs2133589763
NM_000518.4(HBB):c.-73C>T rs1554918265
NM_000518.4(HBB):c.-75G>A rs63750400
NM_000518.4(HBB):c.-79A>C rs34598529
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.-83G>A
NM_000518.4(HBB):c.-91A>C rs1589893790
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.-92C>T rs397515291
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) rs33926796
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.149C>G (p.Ser50Cys) rs33960931
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) rs33922018
NM_000518.4(HBB):c.203T>G (p.Val68Gly) rs33918343
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.248A>T (p.Lys83Met) rs33987903
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) rs33926764
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) rs33917785
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) rs33959340
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.34G>T (p.Val12Phe) rs33974228
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) rs33950093
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.4(HBB):c.71T>A (p.Val24Asp) rs33945546
NM_000518.4(HBB):c.83C>A (p.Ala28Asp) rs33954632
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.4(HBB):c.98T>A (p.Leu33Gln) rs33948578
NM_000518.4(HBB):c.98T>C (p.Leu33Pro) rs33948578
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-23A>G rs1010004981
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-50_92del (p.Met1fs) rs1847579731
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-80T>C rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.-8C>G rs1319747765
NM_000518.5(HBB):c.102G>A (p.Val34=)
NM_000518.5(HBB):c.102G>T (p.Val34=)
NM_000518.5(HBB):c.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.10C>G (p.Leu4Val) rs34126315
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.111T>G (p.Pro37=)
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.114G>T (p.Trp38Cys)
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) rs63750099
NM_000518.5(HBB):c.114del (p.Pro37_Trp38insTer)
NM_000518.5(HBB):c.117C>T (p.Thr39=) rs1847565822
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) rs11549407
NM_000518.5(HBB):c.120G>C (p.Gln40His) rs34663314
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.129T>C (p.Phe43=) rs1554917971
NM_000518.5(HBB):c.12G>C (p.Leu4=) rs1589893645
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.131A>G (p.Glu44Gly) rs35262412
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.139G>C (p.Gly47Arg) rs34743882
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) rs35303218
NM_000518.5(HBB):c.141G>A (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.141G>C (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) rs35619054
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.144T>A (p.Asp48Glu) rs754454495
NM_000518.5(HBB):c.146del (p.Leu49fs) rs1847562491
NM_000518.5(HBB):c.147G>C (p.Leu49=)
NM_000518.5(HBB):c.150C>A (p.Ser50=) rs2133588564
NM_000518.5(HBB):c.150C>T (p.Ser50=) rs2133588564
NM_000518.5(HBB):c.154C>A (p.Pro52Thr) rs281864894
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.158A>T (p.Asp53Val) rs33919924
NM_000518.5(HBB):c.162del (p.Val55fs) rs1554917935
NM_000518.5(HBB):c.166del (p.Met56fs) rs1847560717
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.16C>G (p.Pro6Ala) rs33912272
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.171C>A (p.Gly57=)
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.185A>C (p.Lys62Thr)
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.18T>C (p.Pro6=) rs2133589583
NM_000518.5(HBB):c.193G>A (p.Gly65Ser)
NM_000518.5(HBB):c.195C>G (p.Gly65=) rs2133588365
NM_000518.5(HBB):c.195C>T (p.Gly65=)
NM_000518.5(HBB):c.196A>T (p.Lys66Ter) rs35353749
NM_000518.5(HBB):c.198G>A (p.Lys66=)
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) rs34165323
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.202G>C (p.Val68Leu)
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.209del (p.Gly70fs) rs1847557540
NM_000518.5(HBB):c.210T>A (p.Gly70=) rs2133588276
NM_000518.5(HBB):c.212C>G (p.Ala71Gly)
NM_000518.5(HBB):c.213C>T (p.Ala71=)
NM_000518.5(HBB):c.216T>A (p.Phe72Leu) rs754481448
NM_000518.5(HBB):c.219_220del (p.Ser73fs) rs1564875145
NM_000518.5(HBB):c.21G>A (p.Glu7=) rs1589893600
NM_000518.5(HBB):c.220G>C (p.Asp74His) rs33945705
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) rs1564875128
NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs) rs1847556466
NM_000518.5(HBB):c.225C>G (p.Gly75=) rs1184506313
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) rs34948328
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) rs34948328
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.234C>T (p.His78=) rs33918483
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.237G>T (p.Leu79=)
NM_000518.5(HBB):c.244C>T (p.Leu82Phe) rs11549406
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.246C>T (p.Leu82=)
NM_000518.5(HBB):c.249G>A (p.Lys83=)
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.24G>A (p.Glu8=)
NM_000518.5(HBB):c.24G>C (p.Glu8Asp)
NM_000518.5(HBB):c.250G>C (p.Gly84Arg) rs33930385
NM_000518.5(HBB):c.250G>T (p.Gly84Cys) rs33930385
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.252C>A (p.Gly84=) rs2133588069
NM_000518.5(HBB):c.252C>T (p.Gly84=)
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.253del (p.Thr85fs) rs1554917831
NM_000518.5(HBB):c.255C>A (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.255C>T (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) rs35693898
NM_000518.5(HBB):c.258T>C (p.Phe86=) rs2133588043
NM_000518.5(HBB):c.260C>T (p.Ala87Val) rs35819837
NM_000518.5(HBB):c.261C>T (p.Ala87=) rs1367496536
NM_000518.5(HBB):c.263_267dup (p.Ser90delinsHisTer)
NM_000518.5(HBB):c.265C>T (p.Leu89=)
NM_000518.5(HBB):c.267G>A (p.Leu89=)
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.273G>A (p.Glu91=) rs35002698
NM_000518.5(HBB):c.276G>A (p.Leu92=)
NM_000518.5(HBB):c.279C>A (p.His93Gln) rs34083951
NM_000518.5(HBB):c.279C>T (p.His93=) rs34083951
NM_000518.5(HBB):c.279_280insGTGG (p.Cys94fs) rs1589892417
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.282T>C (p.Cys94=)
NM_000518.5(HBB):c.282del (p.Cys94fs) rs1847552371
NM_000518.5(HBB):c.285C>T (p.Asp95=)
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.288G>A (p.Lys96=) rs36038739
NM_000518.5(HBB):c.288G>C (p.Lys96Asn) rs36038739
NM_000518.5(HBB):c.289C>T (p.Leu97=) rs34665886
NM_000518.5(HBB):c.289_290delinsGG (p.Leu97Gly)
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.294C>G (p.His98Gln) rs34515413
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
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.300T>C (p.Asp100=) rs34013622
NM_000518.5(HBB):c.30dup (p.Ala11fs) rs34548294
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.33dup (p.Val12fs) rs1554918214
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.39T>C (p.Thr13=) rs1554918207
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.45G>T (p.Leu15=)
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.51C>T (p.Gly17=) rs370075492
NM_000518.5(HBB):c.54G>A (p.Lys18=) rs36006214
NM_000518.5(HBB):c.56T>G (p.Val19Gly) rs35382661
NM_000518.5(HBB):c.57G>A (p.Val19=) rs1554918177
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) rs63750840
NM_000518.5(HBB):c.65A>T (p.Asp22Val) rs33977536
NM_000518.5(HBB):c.67G>T (p.Glu23Ter) rs33959855
NM_000518.5(HBB):c.68_74del (p.Glu23fs) rs281864898
NM_000518.5(HBB):c.6G>A (p.Val2=) rs1349384278
NM_000518.5(HBB):c.70G>C (p.Val24Leu) rs33929459
NM_000518.5(HBB):c.74del (p.Gly25fs) rs1847582194
NM_000518.5(HBB):c.78T>C (p.Gly26=) rs373379910
NM_000518.5(HBB):c.78dup (p.Glu27Ter) rs35619688
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.84C>A (p.Ala28=)
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.87G>A (p.Leu29=) rs1191121382
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92+10A>C
NM_000518.5(HBB):c.92+12G>A rs2133589140
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.92+15T>C rs2133589130
NM_000518.5(HBB):c.92+17C>T rs1308676559
NM_000518.5(HBB):c.92+18A>G rs2133589125
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+21A>G
NM_000518.5(HBB):c.92+22C>A
NM_000518.5(HBB):c.92+22C>G rs1232883523
NM_000518.5(HBB):c.92+22C>T
NM_000518.5(HBB):c.92+24G>C rs1847578084
NM_000518.5(HBB):c.92+25G>A
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+2T>G rs33956879
NM_000518.5(HBB):c.92+32G>A
NM_000518.5(HBB):c.92+35A>G rs1847577579
NM_000518.5(HBB):c.92+35_92+36insATAGAATG rs781015056
NM_000518.5(HBB):c.92+36C>T
NM_000518.5(HBB):c.92+40T>A rs375672426
NM_000518.5(HBB):c.92+41A>G rs1847577181
NM_000518.5(HBB):c.92+43A>C
NM_000518.5(HBB):c.92+46C>T rs1847576979
NM_000518.5(HBB):c.92+48G>C rs372778054
NM_000518.5(HBB):c.92+49G>A rs2133589046
NM_000518.5(HBB):c.92+50G>A rs377447760
NM_000518.5(HBB):c.92+54G>C rs1847576671
NM_000518.5(HBB):c.92+57G>A rs962266675
NM_000518.5(HBB):c.92+57G>C rs962266675
NM_000518.5(HBB):c.92+57G>T rs962266675
NM_000518.5(HBB):c.92+58A>G rs1847576487
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92+61C>G rs747160822
NM_000518.5(HBB):c.92+62A>T rs988935334
NM_000518.5(HBB):c.92+64A>C rs2133589016
NM_000518.5(HBB):c.92+64A>G
NM_000518.5(HBB):c.92+65G>A
NM_000518.5(HBB):c.92+65G>T
NM_000518.5(HBB):c.92+6T>A rs35724775
NM_000518.5(HBB):c.92+7A>G rs63750195
NM_000518.5(HBB):c.92+8T>C rs374373297
NM_000518.5(HBB):c.92+9C>T rs374317172
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-14T>A rs1428777319
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-16A>G rs1480884739
NM_000518.5(HBB):c.93-17T>C rs1176965004
NM_000518.5(HBB):c.93-18C>G
NM_000518.5(HBB):c.93-19T>C
NM_000518.5(HBB):c.93-19T>G rs1451581925
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-24_93-23del rs1385066437
NM_000518.5(HBB):c.93-27C>A
NM_000518.5(HBB):c.93-27C>G
NM_000518.5(HBB):c.93-28G>T
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-2A>G rs63750513
NM_000518.5(HBB):c.93-30C>G rs752175922
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000518.5(HBB):c.93-31T>G
NM_000518.5(HBB):c.93-32C>T rs1372536490
NM_000518.5(HBB):c.93-33_101del
NM_000518.5(HBB):c.93-33_96delinsACTGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
NM_000518.5(HBB):c.93-34C>T rs763696976
NM_000518.5(HBB):c.93-36C>T
NM_000518.5(HBB):c.93-36CT[2] rs746824976
NM_000518.5(HBB):c.93-38G>A
NM_000518.5(HBB):c.93-39T>C
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.93-40C>A rs556727592
NM_000518.5(HBB):c.93-41A>C rs1847575815
NM_000518.5(HBB):c.93-41A>G
NM_000518.5(HBB):c.93-44G>C
NM_000518.5(HBB):c.93-46T>A rs373538213
NM_000518.5(HBB):c.93-55G>A rs1186575711
NM_000518.5(HBB):c.93-55G>C
NM_000518.5(HBB):c.93-56G>A
NM_000518.5(HBB):c.93-59C>T rs1847576219
NM_000518.5(HBB):c.93-5C>G
NM_000518.5(HBB):c.93-5C>T rs1205031264
NM_000518.5(HBB):c.93-61C>A
NM_000518.5(HBB):c.93-62A>T
NM_000518.5(HBB):c.93-64A>G rs2133589012
NM_000518.5(HBB):c.93-65_93-64del
NM_000518.5(HBB):c.93-6C>T rs1554918048
NM_000518.5(HBB):c.93-7C>A rs2133588899
NM_000518.5(HBB):c.93-9C>G
NM_000518.5(HBB):c.93-9dup
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040
NM_000518.5(HBB):c.9_10delinsCT (p.His3_Leu4=) rs2133589628

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