ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as other

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
Download table as spreadsheet
HGVS dbSNP
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.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>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>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.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.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>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.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.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>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.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.[295G>A;98T>A]
NM_000518.5(HBB):c.100G>A (p.Val34Met) rs1141370
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.112T>A (p.Trp38Arg) rs33994623
NM_000518.5(HBB):c.112T>G (p.Trp38Gly) rs33994623
NM_000518.5(HBB):c.113G>C (p.Trp38Ser) rs33991059
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.119A>G (p.Gln40Arg) rs35973315
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.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412
NM_000518.5(HBB):c.131_139del (p.Glu44_Phe46del) rs35637840
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.155C>G (p.Pro52Arg) rs33969727
NM_000518.5(HBB):c.164T>A (p.Val55Asp) rs34037627
NM_000518.5(HBB):c.167T>A (p.Met56Lys) rs35094013
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.170_181del (p.Gly57_Lys60del) rs63751103
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.178A>G (p.Lys60Glu) rs33969400
NM_000518.5(HBB):c.17C>G (p.Pro6Arg) rs34769005
NM_000518.5(HBB):c.17del (p.Pro6fs) rs63750729
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.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.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.19_21GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.215T>C (p.Phe72Ser) rs34362537
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.229G>C (p.Ala77Pro) rs35286210
NM_000518.5(HBB):c.230C>A (p.Ala77Asp) rs33985847
NM_000518.5(HBB):c.233A>G (p.His78Arg) rs33952543
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.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.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.254C>T (p.Thr85Ile) rs35914488
NM_000518.5(HBB):c.259G>C (p.Ala87Pro) rs33952147
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.272A>G (p.Glu91Gly) rs35068498
NM_000518.5(HBB):c.273G>C (p.Glu91Asp) rs35002698
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_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>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.293_295del (p.His98_Val99delinsLeu) rs63750837
NM_000518.5(HBB):c.294C>R (p.His98Gln) rs34515413
NM_000518.5(HBB):c.300T>R (p.Asp100Glu) rs34013622
NM_000518.5(HBB):c.35T>A (p.Val12Asp) rs35140348
NM_000518.5(HBB):c.41C>A (p.Ala14Asp) rs35203747
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.49G>C (p.Gly17Arg) rs63751285
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
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.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.65A>G (p.Asp22Gly) rs33977536
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.77G>A (p.Gly26Asp) rs35474880
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.7C>T (p.His3Tyr) rs35906307
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85C>A (p.Leu29Met) rs33958088
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.94C>G (p.Leu32Val) rs33956555
NM_000518.5(HBB):c.99_101GGT[1] (p.Val35del) rs35699671
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.