ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
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_000518.4(HBB):c.76G>C (p.Gly26Arg) rs34404985 0.00004
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
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.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
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.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>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>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.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.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>T (p.Val12Phe) rs33974228
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>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.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.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.10_16delinsTCTGACT (p.Leu4_Pro6delinsSerAspSer) rs2133589604
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.118C>A (p.Gln40Lys) rs11549407
NM_000518.5(HBB):c.118C>G (p.Gln40Glu)
NM_000518.5(HBB):c.119A>G (p.Gln40Arg) rs35973315
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.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.152_153delinsAR (p.Thr51Lys)
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.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.19GAG[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.215T>C (p.Phe72Ser) rs34362537
NM_000518.5(HBB):c.221_227delinsCTCGGTGCCA (p.Asp74_Leu76delinsAlaArgCysGln)
NM_000518.5(HBB):c.223G>C (p.Gly75Arg) rs33916541
NM_000518.5(HBB):c.224_229del (p.Gly75_Leu76del) rs63750968
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.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.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.52A>C (p.Lys18Gln)
NM_000518.5(HBB):c.52A>G (p.Lys18Glu)
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.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.74GTG[1] (p.Gly26del) rs63749918
NM_000518.5(HBB):c.77G>A (p.Gly26Asp) rs35474880
NM_000518.5(HBB):c.7C>T (p.His3Tyr) rs35906307
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.95T>G (p.Leu32Arg) rs33920173
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) rs35699671
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040

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