ClinVar Miner

List of variants in gene combination HBA1, LOC106804613 reported as other by OMIM

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Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser) rs33960522 0.00030
NM_000558.5(HBA1):c.245C>G (p.Ser82Cys) rs34936612 0.00005
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000558.3(HBA1):c.170A>G (p.Lys57Arg) rs33949106 0.00001
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.3(HBA1):c.424C>G (p.Arg142Gly) rs33991910 0.00001
NM_000558.5(HBA1):c.193G>A (p.Asp65Asn) rs33984024 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NM_000558.5(HBA1):c.384G>C (p.Lys128Asn) rs63749865 0.00001
NM_000558.5(HBA1):c.38C>A (p.Ala13Asp) rs35615982 0.00001
NM_000558.3(HBA1):c.113C>G (p.Pro38Arg) rs35776155
NM_000558.3(HBA1):c.114_115insGAA (p.Pro38_Thr39insGlu) rs34667595
NM_000558.3(HBA1):c.11C>T (p.Ser4Phe) rs35850071
NM_000558.3(HBA1):c.123G>C (p.Lys41Asn) rs28928886
NM_000558.3(HBA1):c.134C>G (p.Pro45Arg) rs33978134
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.137A>C (p.His46Pro) rs28928883
NM_000558.3(HBA1):c.137A>G (p.His46Arg) rs28928883
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn) rs34269448
NM_000558.3(HBA1):c.143A>C (p.Asp48Ala) rs33944368
NM_000558.3(HBA1):c.143A>G (p.Asp48Gly) rs33944368
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.166G>C (p.Val56Leu) rs34068598
NM_000558.3(HBA1):c.170A>C (p.Lys57Thr) rs33949106
NM_000558.3(HBA1):c.171G>C (p.Lys57Asn) rs281860657
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.179G>T (p.Gly60Val) rs28928878
NM_000558.3(HBA1):c.183G>A (p.Lys61=) rs281860659
NM_000558.3(HBA1):c.193G>T (p.Asp65Tyr) rs33984024
NM_000558.3(HBA1):c.197C>T (p.Ala66Val) rs34733452
NM_000558.3(HBA1):c.19G>A (p.Asp7Asn) rs33961916
NM_000558.3(HBA1):c.19G>T (p.Asp7Tyr) rs33961916
NM_000558.3(HBA1):c.20A>C (p.Asp7Ala) rs33986902
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.3(HBA1):c.20A>T (p.Asp7Val) rs33986902
NM_000558.3(HBA1):c.217C>T (p.His73Tyr) rs36104787
NM_000558.3(HBA1):c.224A>C (p.Asp75Ala) rs33921047
NM_000558.3(HBA1):c.224A>G (p.Asp75Gly) rs33921047
NM_000558.3(HBA1):c.226G>A (p.Asp76Asn) rs33977363
NM_000558.3(HBA1):c.226G>C (p.Asp76His) rs33977363
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) rs33977363
NM_000558.3(HBA1):c.227A>C (p.Asp76Ala) rs33991223
NM_000558.3(HBA1):c.227A>G (p.Asp76Gly) rs33991223
NM_000558.3(HBA1):c.230T>A (p.Met77Lys) rs33969953
NM_000558.3(HBA1):c.230T>C (p.Met77Thr) rs33969953
NM_000558.3(HBA1):c.233C>G (p.Pro78Arg) rs34019158
NM_000558.3(HBA1):c.238G>A (p.Ala80Thr) rs34586189
NM_000558.3(HBA1):c.248C>A (p.Ala83Asp) rs34879587
NM_000558.3(HBA1):c.256G>A (p.Asp86Asn) rs33915947
NM_000558.3(HBA1):c.256G>T (p.Asp86Tyr) rs33915947
NM_000558.3(HBA1):c.268C>T (p.His90Tyr) rs34988734
NM_000558.3(HBA1):c.269A>C (p.His90Pro) rs33944813
NM_000558.3(HBA1):c.269A>G (p.His90Arg) rs33944813
NM_000558.3(HBA1):c.269A>T (p.His90Leu) rs33944813
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr) rs33911106
NM_000558.3(HBA1):c.272A>T (p.Lys91Met) rs33911106
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln) rs33991779
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu) rs33991779
NM_000558.3(HBA1):c.281T>C (p.Val94Ala) rs34769782
NM_000558.3(HBA1):c.283G>A (p.Asp95Asn) rs34102339
NM_000558.3(HBA1):c.283G>C (p.Asp95His) rs34102339
NM_000558.3(HBA1):c.283G>T (p.Asp95Tyr) rs34102339
NM_000558.3(HBA1):c.286C>A (p.Pro96Thr) rs33984621
NM_000558.3(HBA1):c.286C>G (p.Pro96Ala) rs33984621
NM_000558.3(HBA1):c.287C>G (p.Pro96Arg) rs33931314
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.30C>G (p.Asn10Lys) rs28928885
NM_000558.3(HBA1):c.310C>T (p.His104Tyr) rs28928884
NM_000558.3(HBA1):c.313T>A (p.Cys105Ser) rs35059618
NM_000558.3(HBA1):c.331G>A (p.Ala111Thr) rs34629158
NM_000558.3(HBA1):c.334G>A (p.Ala112Thr) rs34863047
NM_000558.3(HBA1):c.344C>G (p.Pro115Arg) rs33910377
NM_000558.3(HBA1):c.344C>T (p.Pro115Leu) rs33910377
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.3(HBA1):c.349G>C (p.Glu117Gln) rs63749882
NM_000558.3(HBA1):c.34A>C (p.Lys12Gln) rs33938574
NM_000558.3(HBA1):c.370G>T (p.Ala124Ser) rs28928881
NM_000558.3(HBA1):c.424C>A (p.Arg142Ser) rs33991910
NM_000558.3(HBA1):c.424C>T (p.Arg142Cys) rs33991910
NM_000558.3(HBA1):c.425G>A (p.Arg142His) rs33935328
NM_000558.3(HBA1):c.425G>C (p.Arg142Pro) rs33935328
NM_000558.3(HBA1):c.425G>T (p.Arg142Leu) rs33935328
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.3(HBA1):c.51G>C (p.Lys17Asn) rs281860648
NM_000558.3(HBA1):c.61C>T (p.His21Tyr) rs34708054
NM_000558.3(HBA1):c.70G>A (p.Glu24Lys) rs33939620
NM_000558.3(HBA1):c.70G>C (p.Glu24Gln) rs33939620
NM_000558.3(HBA1):c.71A>G (p.Glu24Gly) rs33939421
NM_000558.3(HBA1):c.71A>T (p.Glu24Val) rs33939421
NM_000558.3(HBA1):c.72G>T (p.Glu24Asp) rs281860684
NM_000558.3(HBA1):c.74A>G (p.Tyr25Cys) rs28928880
NM_000558.3(HBA1):c.80C>A (p.Ala27Glu) rs35477770
NM_000558.3(HBA1):c.83A>G (p.Glu28Gly) rs33964507
NM_000558.3(HBA1):c.[235A>G;239C>G]
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg) rs35203445
NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del) rs63751150
NM_000558.5(HBA1):c.121A>G (p.Lys41Glu) rs34492931
NM_000558.5(HBA1):c.124A>T (p.Thr42Ser) rs34890875
NM_000558.5(HBA1):c.130T>G (p.Phe44Val) rs35511459
NM_000558.5(HBA1):c.136C>G (p.His46Asp) rs33931984
NM_000558.5(HBA1):c.138C>G (p.His46Gln) rs281860685
NM_000558.5(HBA1):c.152A>G (p.His51Arg) rs33967561
NM_000558.5(HBA1):c.155G>A (p.Gly52Asp) rs35934411
NM_000558.5(HBA1):c.157_180del (p.Ser53_Gly60del) rs63750122
NM_000558.5(HBA1):c.161C>A (p.Ala54Asp) rs34574239
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.164A>G (p.Gln55Arg) rs36024711
NM_000558.5(HBA1):c.169A>G (p.Lys57Glu) rs34182019
NM_000558.5(HBA1):c.16G>C (p.Ala6Pro) rs34751764
NM_000558.5(HBA1):c.172G>C (p.Gly58Arg) rs35252931
NM_000558.5(HBA1):c.173G>A (p.Gly58Asp) rs36062788
NM_000558.5(HBA1):c.175C>T (p.His59Tyr) rs35213748
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.181A>G (p.Lys61Glu) rs34259907
NM_000558.5(HBA1):c.185A>C (p.Lys62Thr) rs41381645
NM_000558.5(HBA1):c.188_190del (p.Val63del) rs35672478
NM_000558.5(HBA1):c.191C>A (p.Ala64Asp) rs34502246
NM_000558.5(HBA1):c.194A>G (p.Asp65Gly) rs35873730
NM_000558.5(HBA1):c.205A>G (p.Asn69Asp) rs34823698
NM_000558.5(HBA1):c.215C>A (p.Ala72Glu) rs3180281
NM_000558.5(HBA1):c.215C>T (p.Ala72Val) rs3180281
NM_000558.5(HBA1):c.218A>G (p.His73Arg) rs35859529
NM_000558.5(HBA1):c.223G>A (p.Asp75Asn) rs28928875
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.235A>G (p.Asn79Asp) rs33964623
NM_000558.5(HBA1):c.237C>G (p.Asn79Lys) rs34440919
NM_000558.5(HBA1):c.242T>G (p.Leu81Arg) rs34071856
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn) rs34410516
NM_000558.5(HBA1):c.253A>C (p.Ser85Arg) rs33926206
NM_000558.5(HBA1):c.260T>G (p.Leu87Arg) rs35548338
NM_000558.5(HBA1):c.262C>A (p.His88Asn) rs28928876
NM_000558.5(HBA1):c.262C>T (p.His88Tyr) rs28928876
NM_000558.5(HBA1):c.263A>G (p.His88Arg) rs33976776
NM_000558.5(HBA1):c.265G>T (p.Ala89Ser) rs35239527
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.275T>C (p.Leu92Pro) rs34684963
NM_000558.5(HBA1):c.277C>T (p.Arg93Trp) rs34868036
NM_000558.5(HBA1):c.284A>G (p.Asp95Gly) rs28928879
NM_000558.5(HBA1):c.285C>G (p.Asp95Glu) rs34814612
NM_000558.5(HBA1):c.292A>C (p.Asn98His) rs41322954
NM_000558.5(HBA1):c.298A>G (p.Lys100Glu) rs34806456
NM_000558.5(HBA1):c.300G>T (p.Lys100Asn) rs34273731
NM_000558.5(HBA1):c.311A>G (p.His104Arg) rs35329201
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.338A>G (p.His113Arg) rs34713708
NM_000558.5(HBA1):c.343C>T (p.Pro115Ser) rs34472107
NM_000558.5(HBA1):c.347C>A (p.Ala116Asp) rs34204059
NM_000558.5(HBA1):c.34A>G (p.Lys12Glu) rs33938574
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.36G>C (p.Lys12Asn) rs281860646
NM_000558.5(HBA1):c.379G>C (p.Asp127His) rs63750950
NM_000558.5(HBA1):c.379G>T (p.Asp127Tyr)
NM_000558.5(HBA1):c.380A>T (p.Asp127Val) rs63750467
NM_000558.5(HBA1):c.383A>C (p.Lys128Thr) rs63751308
NM_000558.5(HBA1):c.392C>A (p.Ala131Asp) rs63750613
NM_000558.5(HBA1):c.394T>C (p.Ser132Pro) rs35974739
NM_000558.5(HBA1):c.398T>G (p.Val133Gly) rs35166834
NM_000558.5(HBA1):c.407T>A (p.Val136Glu) rs35994191
NM_000558.5(HBA1):c.409C>A (p.Leu137Met) rs121913127
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
NM_000558.5(HBA1):c.415T>C (p.Ser139Pro) rs34011123
NM_000558.5(HBA1):c.419A>C (p.Lys140Thr) rs34849179
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) rs35723200
NM_000558.5(HBA1):c.424_426del (p.Arg142del) rs121913128
NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa) rs33964317
NM_000558.5(HBA1):c.46G>C (p.Gly16Arg) rs35816645
NM_000558.5(HBA1):c.50A>T (p.Lys17Met) rs35210126
NM_000558.5(HBA1):c.55G>C (p.Gly19Arg) rs34504387
NM_000558.5(HBA1):c.56G>A (p.Gly19Asp) rs35993097
NM_000558.5(HBA1):c.59C>A (p.Ala20Glu) rs35628685
NM_000558.5(HBA1):c.5T>A (p.Val2Glu) rs281864802
NM_000558.5(HBA1):c.62A>G (p.His21Arg) rs33943087
NM_000558.5(HBA1):c.64G>C (p.Ala22Pro) rs34324664
NM_000558.5(HBA1):c.65C>A (p.Ala22Asp) rs11548605
NM_000558.5(HBA1):c.68G>A (p.Gly23Asp) rs34608326
NM_000558.5(HBA1):c.73T>C (p.Tyr25His) rs34743106
NM_000558.5(HBA1):c.82G>A (p.Glu28Lys) rs34776279
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000558.5(HBA1):c.8T>G (p.Leu3Arg) rs36030576
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) rs33993166

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