ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510

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Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP
NM_000518.4(HBB):c.-100G>A rs281864524
NM_000518.4(HBB):c.-102G>T rs1554918277
NM_000518.4(HBB):c.-122T>G rs1272414751
NM_000518.4(HBB):c.-140C>G rs34999973
NM_000518.4(HBB):c.-150T>A rs1448799110
NM_000518.4(HBB):c.-71G>A rs1554918264
NM_000518.4(HBB):c.-73C>T rs1554918265
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.-82C>T rs34500389
NM_000518.4(HBB):c.-83G>T rs1160543272
NM_000518.4(HBB):c.109C>A (p.Pro37Thr) rs33948615
NM_000518.4(HBB):c.109C>G (p.Pro37Ala) rs33948615
NM_000518.4(HBB):c.109C>T (p.Pro37Ser) rs33948615
NM_000518.4(HBB):c.110C>A (p.Pro37His) rs33993004
NM_000518.4(HBB):c.110C>G (p.Pro37Arg) rs33993004
NM_000518.4(HBB):c.125T>A (p.Phe42Tyr) rs33926796
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) rs33926796
NM_000518.4(HBB):c.125T>G (p.Phe42Cys) rs33926796
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.127T>G (p.Phe43Val) rs33924146
NM_000518.4(HBB):c.130G>C (p.Glu44Gln) rs33922842
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.137T>G (p.Phe46Cys) rs33978338
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.142G>T (p.Asp48Tyr) rs33932070
NM_000518.4(HBB):c.143A>C (p.Asp48Ala) rs33980484
NM_000518.4(HBB):c.143A>G (p.Asp48Gly) rs33980484
NM_000518.4(HBB):c.146T>C (p.Leu49Pro) rs33952850
NM_000518.4(HBB):c.146T>G (p.Leu49Arg) rs33952850
NM_000518.4(HBB):c.149C>G (p.Ser50Cys) rs33960931
NM_000518.4(HBB):c.149C>T (p.Ser50Phe) 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.158A>C (p.Asp53Ala) rs33919924
NM_000518.4(HBB):c.158A>G (p.Asp53Gly) rs33919924
NM_000518.4(HBB):c.182T>A (p.Val61Glu) rs33931779
NM_000518.4(HBB):c.182T>C (p.Val61Ala) rs33931779
NM_000518.4(HBB):c.184A>C (p.Lys62Gln) rs33995148
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.191A>C (p.His64Pro) rs33985544
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.194G>A (p.Gly65Asp) rs33922018
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) rs33922018
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.19G>C (p.Glu7Gln) rs33930165
NM_000518.4(HBB):c.202G>A (p.Val68Met) rs36008922
NM_000518.4(HBB):c.203T>A (p.Val68Glu) rs33918343
NM_000518.4(HBB):c.203T>C (p.Val68Ala) rs33918343
NM_000518.4(HBB):c.203T>G (p.Val68Gly) rs33918343
NM_000518.4(HBB):c.206T>A (p.Leu69His) rs33972593
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.208G>C (p.Gly70Arg) rs33947415
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) rs334
NM_000518.4(HBB):c.212C>A (p.Ala71Asp) rs33946401
NM_000518.4(HBB):c.212C>T (p.Ala71Val) rs33946401
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705
NM_000518.4(HBB):c.220G>T (p.Asp74Tyr) rs33945705
NM_000518.4(HBB):c.221A>G (p.Asp74Gly) rs33967755
NM_000518.4(HBB):c.221A>T (p.Asp74Val) rs33967755
NM_000518.4(HBB):c.223_228delGGCCTG (p.Gly75_Leu76delGlyLeu) rs63750968
NM_000518.4(HBB):c.224G>A (p.Gly75Asp) rs33976006
NM_000518.4(HBB):c.224G>T (p.Gly75Val) rs33976006
NM_000518.4(HBB):c.227T>C (p.Leu76Pro) rs33950542
NM_000518.4(HBB):c.227T>G (p.Leu76Arg) rs33950542
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>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His) rs33990858
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.245T>A (p.Leu82His) rs33936967
NM_000518.4(HBB):c.245T>G (p.Leu82Arg) rs33936967
NM_000518.4(HBB):c.247A>C (p.Lys83Gln) rs33940051
NM_000518.4(HBB):c.247A>G (p.Lys83Glu) rs33940051
NM_000518.4(HBB):c.248A>C (p.Lys83Thr) rs33987903
NM_000518.4(HBB):c.248A>T (p.Lys83Met) rs33987903
NM_000518.4(HBB):c.25A>C (p.Lys9Gln) rs33926764
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) rs33926764
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.263C>T (p.Thr88Ile) rs33993568
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.266T>G (p.Leu89Arg) rs33940204
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.269G>C (p.Ser90Thr) rs33917628
NM_000518.4(HBB):c.26A>C (p.Lys9Thr) rs33932981
NM_000518.4(HBB):c.26A>G (p.Lys9Arg) rs33932981
NM_000518.4(HBB):c.26A>T (p.Lys9Met) rs33932981
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) rs33917785
NM_000518.4(HBB):c.277C>A (p.His93Asn) rs33924775
NM_000518.4(HBB):c.277C>G (p.His93Asp) rs33924775
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.278A>C (p.His93Pro) rs33974325
NM_000518.4(HBB):c.278A>G (p.His93Arg) rs33974325
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) rs33959340
NM_000518.4(HBB):c.283G>C (p.Asp95His) rs33959340
NM_000518.4(HBB):c.283G>T (p.Asp95Tyr) rs33959340
NM_000518.4(HBB):c.287dupA (p.Leu97Alafs) rs34937014
NM_000518.4(HBB):c.292C>A (p.His98Asn) rs33950993
NM_000518.4(HBB):c.292C>T (p.His98Tyr) rs33950993
NM_000518.4(HBB):c.293A>C (p.His98Pro) rs33951978
NM_000518.4(HBB):c.293A>T (p.His98Leu) rs33951978
NM_000518.4(HBB):c.296T>C (p.Val99Ala) rs33985510
NM_000518.4(HBB):c.296T>G (p.Val99Gly) rs33985510
NM_000518.4(HBB):c.298G>A (p.Asp100Asn) rs33954595
NM_000518.4(HBB):c.298G>C (p.Asp100His) rs33954595
NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) rs33954595
NM_000518.4(HBB):c.299A>C (p.Asp100Ala) rs33971048
NM_000518.4(HBB):c.299A>G (p.Asp100Gly) rs33971048
NM_000518.4(HBB):c.299A>T (p.Asp100Val) rs33971048
NM_000518.4(HBB):c.29C>A (p.Ser10Tyr) rs33918131
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.32C>A (p.Ala11Asp) rs33947457
NM_000518.4(HBB):c.32C>T (p.Ala11Val) rs33947457
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.4(HBB):c.34G>T (p.Val12Phe) rs33974228
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.64G>A (p.Asp22Asn) rs33950093
NM_000518.4(HBB):c.64G>C (p.Asp22His) rs33950093
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>C (p.Glu23Ala) rs33936254
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.70G>T (p.Val24Phe) rs33929459
NM_000518.4(HBB):c.71T>A (p.Val24Asp) rs33945546
NM_000518.4(HBB):c.71T>C (p.Val24Ala) rs33945546
NM_000518.4(HBB):c.71T>G (p.Val24Gly) rs33945546
NM_000518.4(HBB):c.74G>A (p.Gly25Asp) rs33968721
NM_000518.4(HBB):c.74G>T (p.Gly25Val) rs33968721
NM_000518.4(HBB):c.76G>C (p.Gly26Arg) rs34404985
NM_000518.4(HBB):c.80A>C (p.Glu27Ala) rs33915112
NM_000518.4(HBB):c.80A>G (p.Glu27Gly) rs33915112
NM_000518.4(HBB):c.80A>T (p.Glu27Val) rs33915112
NM_000518.4(HBB):c.83C>A (p.Ala28Asp) rs33954632
NM_000518.4(HBB):c.83C>T (p.Ala28Val) rs33954632
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.4(HBB):c.86T>C (p.Leu29Pro) rs33916412
NM_000518.4(HBB):c.86T>G (p.Leu29Arg) rs33916412
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.4(HBB):c.8A>T (p.His3Leu) rs33983205
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.4(HBB):c.95T>C (p.Leu32Pro) rs33920173
NM_000518.4(HBB):c.98T>C (p.Leu33Pro) rs33948578
NM_000518.4(HBB):c.98T>G (p.Leu33Arg) rs33948578
NM_000518.4(HBB):c.[154C>T;157G>A]
NM_000518.4(HBB):c.[169G>C;259G>C]
NM_000518.4(HBB):c.[176C>G;20A>T]
NM_000518.4(HBB):c.[19G>A;286A>G]
NM_000518.4(HBB):c.[205C>T;20A>T]
NM_000518.4(HBB):c.[20A>T;220G>A]
NM_000518.4(HBB):c.[20A>T;249G>Y]
NM_000518.4(HBB):c.[20A>T;271G>A]
NM_000518.4(HBB):c.[20A>T;70G>A]
NM_000518.4(HBB):c.[295G>A;98T>A]
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-10_-7del rs34196559
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.-23A>G rs1010004981
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.-75G>A rs63750400
NM_000518.5(HBB):c.-75G>C rs63750400
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.-82C>A rs34500389
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.-92C>T rs397515291
NM_000518.5(HBB):c.0_92+25del rs1564875707
NM_000518.5(HBB):c.100G>A (p.Val34Met) rs1141370
NM_000518.5(HBB):c.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.104T>A (p.Val35Asp) rs1135101
NM_000518.5(HBB):c.107A>T (p.Tyr36Phe) rs35857380
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.10C>A (p.Leu4Met) rs34126315
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.112T>A (p.Trp38Arg) rs33994623
NM_000518.5(HBB):c.112T>G (p.Trp38Gly) rs33994623
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.113G>C (p.Trp38Ser) rs33991059
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.115A>C (p.Thr39Pro) rs34571024
NM_000518.5(HBB):c.116C>A (p.Thr39Asn) rs34703513
NM_000518.5(HBB):c.116C>T (p.Thr39Ile) rs34703513
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.119A>G (p.Gln40Arg) rs35973315
NM_000518.5(HBB):c.11T>A (p.Leu4Gln) rs63750720
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026
NM_000518.5(HBB):c.123G>C (p.Arg41Ser) rs33918778
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) rs33924146
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.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412
NM_000518.5(HBB):c.131A>G (p.Glu44Gly) rs35262412
NM_000518.5(HBB):c.131_139del (p.Glu44_Phe46del) rs35637840
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>A (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.143_146dup (p.Thr51fs) rs35619054
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.144T>C (p.Asp48=) rs754454495
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336
NM_000518.5(HBB):c.155C>G (p.Pro52Arg) rs33969727
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.164T>A (p.Val55Asp) rs34037627
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) rs1564875331
NM_000518.5(HBB):c.167T>A (p.Met56Lys) rs35094013
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.169G>C (p.Gly57Arg) rs33935983
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278
NM_000518.5(HBB):c.170_181del (p.Gly57_Lys60del) rs63751103
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551
NM_000518.5(HBB):c.172A>G (p.Asn58Asp) rs33988732
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.174C>T (p.Asn58=) rs35278874
NM_000518.5(HBB):c.176C>G (p.Pro59Arg) rs33991472
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.178A>G (p.Lys60Glu) rs33969400
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.17C>G (p.Pro6Arg) rs34769005
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.17del (p.Pro6fs) rs63750729
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.181G>C (p.Val61Leu) rs33990253
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.185A>T (p.Lys62Met) rs34974709
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.187G>C (p.Ala63Pro) rs34933455
NM_000518.5(HBB):c.188C>A (p.Ala63Asp) rs34151786
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.194del (p.Gly65fs) rs36107977
NM_000518.5(HBB):c.196A>C (p.Lys66Gln) rs35353749
NM_000518.5(HBB):c.197A>T (p.Lys66Met) rs33932548
NM_000518.5(HBB):c.198G>C (p.Lys66Asn) rs35747961
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) rs34165323
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.19_21GAG[1] (p.Glu8del) rs63750928
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.201A>G (p.Lys67=) rs36092904
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
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.207C>T (p.Leu69=) rs112287010
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.215T>C (p.Phe72Ser) rs34362537
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.219_220del (p.Ser73fs) rs1564875145
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) rs1564875128
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) rs33916541
NM_000518.5(HBB):c.223G>C (p.Gly75Arg) rs33916541
NM_000518.5(HBB):c.226_228del (p.Leu76del) rs35452098
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.229G>C (p.Ala77Pro) rs35286210
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) rs34948328
NM_000518.5(HBB):c.230C>A (p.Ala77Asp) rs33985847
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.233A>G (p.His78Arg) rs33952543
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.236T>G (p.Leu79Arg) rs34870172
NM_000518.5(HBB):c.239A>G (p.Asp80Gly) rs34173382
NM_000518.5(HBB):c.243C>A (p.Asn81Lys) rs35890380
NM_000518.5(HBB):c.244C>T (p.Leu82Phe) rs11549406
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) rs33991993
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.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.253del (p.Thr85fs) rs1554917831
NM_000518.5(HBB):c.254C>T (p.Thr85Ile) rs35914488
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) rs35693898
NM_000518.5(HBB):c.259G>C (p.Ala87Pro) rs33952147
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.260C>A (p.Ala87Asp) rs35819837
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.262_264del (p.Thr88del) rs63751171
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) rs35351128
NM_000518.5(HBB):c.270T>C (p.Ser90=) rs1554917814
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.272A>G (p.Glu91Gly) rs35068498
NM_000518.5(HBB):c.273G>C (p.Glu91Asp) rs35002698
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
NM_000518.5(HBB):c.279C>R (p.His93Gln) rs34083951
NM_000518.5(HBB):c.27G>C (p.Lys9Asn) rs35198910
NM_000518.5(HBB):c.280T>C (p.Cys94Arg) rs33972927
NM_000518.5(HBB):c.280_281TG[3] (p.Asp95fs) rs34533941
NM_000518.5(HBB):c.280_294del (p.Cys94_His98del) rs34210688
NM_000518.5(HBB):c.284A>G (p.Asp95Gly) rs34579351
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359
NM_000518.5(HBB):c.287A>T (p.Lys96Met) rs35204496
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>G (p.Leu97Val) rs34665886
NM_000518.5(HBB):c.290T>C (p.Leu97Pro) rs36081208
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.293_295del (p.His98_Val99delinsLeu) rs63750837
NM_000518.5(HBB):c.294C>R (p.His98Gln) rs34515413
NM_000518.5(HBB):c.294C>T (p.His98=) 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>R (p.Asp100Glu) rs34013622
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) rs63750717
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.33C>T (p.Ala11=) rs35799536
NM_000518.5(HBB):c.33dup (p.Val12fs) rs1554918214
NM_000518.5(HBB):c.35T>A (p.Val12Asp) rs35140348
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.41C>A (p.Ala14Asp) rs35203747
NM_000518.5(HBB):c.41C>T (p.Ala14Val) rs35203747
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.46T>A (p.Trp16Arg) rs33946157
NM_000518.5(HBB):c.46T>G (p.Trp16Gly) rs33946157
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.49G>C (p.Gly17Arg) rs63751285
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.4G>T (p.Val2Leu) rs33958358
NM_000518.5(HBB):c.4del (p.Val2fs) rs63750475
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.54G>C (p.Lys18Asn) rs36006214
NM_000518.5(HBB):c.54_59del (p.Lys18_Val19del) rs63749958
NM_000518.5(HBB):c.55G>A (p.Val19Met) rs35802118
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.58A>G (p.Asn20Asp) rs34866629
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.5T>A (p.Val2Glu) rs33949930
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.5T>G (p.Val2Gly) rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) rs63750840
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959
NM_000518.5(HBB):c.62T>A (p.Val21Glu) rs33918474
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.65A>G (p.Asp22Gly) rs33977536
NM_000518.5(HBB):c.6G>A (p.Val2=) rs1349384278
NM_000518.5(HBB):c.70G>A (p.Val24Ile) rs33929459
NM_000518.5(HBB):c.70G>C (p.Val24Leu) rs33929459
NM_000518.5(HBB):c.71_73del (p.Val24del) rs34160180
NM_000518.5(HBB):c.73G>C (p.Gly25Arg) rs33972975
NM_000518.5(HBB):c.74_76GTG[1] (p.Gly26del) rs63749918
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.77G>A (p.Gly26Asp) rs35474880
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.79_80insT (p.Glu27fs) rs35477349
NM_000518.5(HBB):c.7C>T (p.His3Tyr) rs35906307
NM_000518.5(HBB):c.81G>C (p.Glu27Asp) rs281864581
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717
NM_000518.5(HBB):c.85C>A (p.Leu29Met) rs33958088
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.88G>A (p.Gly30Ser) rs33974277
NM_000518.5(HBB):c.89G>A (p.Gly30Asp) rs35685286
NM_000518.5(HBB):c.8A>C (p.His3Pro) rs33983205
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+2T>G rs33956879
NM_000518.5(HBB):c.92+4G>A rs1377832836
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92+6T>A rs35724775
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-15T>C rs35456885
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.93-1G>C rs33943001
NM_000518.5(HBB):c.93-1_94dup rs35348864
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.93-24A>G rs773687221
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-2A>G
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.93-6C>T rs1554918048
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071
NM_000518.5(HBB):c.94C>G (p.Leu32Val) rs33956555
NM_000518.5(HBB):c.95T>G (p.Leu32Arg)
NM_000518.5(HBB):c.99_101GGT[1] (p.Val35del) rs35699671
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040

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