ClinVar Miner

List of variants in gene HBB, LOC106099062, LOC107133510 studied for thalassemia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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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
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
NC_000011.10:g.5227154C>T rs72561473 0.00312
NC_000011.10:g.5227100T>C rs34598529 0.00091
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
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
NC_000011.10:g.5227159G>A rs33944208 0.00021
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 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
NC_000011.10:g.5227172G>A 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.51del (p.Lys18fs) rs35662066 0.00003
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336 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.262A>C (p.Thr88Pro) rs35553496 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.93-40C>T rs556727592 0.00002
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_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.-136C>T rs33994806 0.00001
NM_000518.5(HBB):c.-15C>A rs193922550 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.123G>T (p.Arg41Ser) rs33918778 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.286A>G (p.Lys96Glu) rs33914359 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.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NC_000011.10:g.5226641_5227549del
NC_000011.10:g.5226948_5227485del rs1847582308
NC_000011.10:g.5226992_5227096del rs1847587051
NC_000011.10:g.5226994_5227525del rs1847587350
NC_000011.10:g.5227096C>A rs63750400
NC_000011.10:g.5227097T>G rs281864525
NC_000011.10:g.5227098T>A rs1847591425
NC_000011.10:g.5227101A>C rs33980857
NC_000011.10:g.5227101A>T rs33980857
NC_000011.10:g.5227113G>C rs397515291
NC_000011.10:g.5227131_5227256del rs1847592245
NC_000011.10:g.5227147G>T rs1847592435
NC_000011.10:g.5227157G>C rs33994806
NC_000011.10:g.5227158G>A rs33941377
NM_000518.4(HBB):c.-122T>C
NM_000518.4(HBB):c.-124A>T
NM_000518.4(HBB):c.-136C>A
NM_000518.4(HBB):c.-138C>G rs33944208
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.-79A>C rs34598529
NM_000518.4(HBB):c.-82C>A rs34500389
NM_000518.4(HBB):c.-91A>C rs1589893790
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.232C>T (p.His78Tyr) rs33991294
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.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.-121C>T rs281864518
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-22_23dup (p.Glu8delinsAspTer) rs1847587930
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-35A>G rs1847590703
NM_000518.5(HBB):c.-41del rs35352549
NM_000518.5(HBB):c.-50A>C rs34305195
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.0_92+25del rs1564875707
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys) rs35857380
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.108C>G (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.111_118del (p.Trp38fs) rs1847565768
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) rs63750099
NM_000518.5(HBB):c.117_118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.11dup (p.Thr5fs) rs1847588915
NM_000518.5(HBB):c.123del (p.Arg41fs) rs63749957
NM_000518.5(HBB):c.125dup (p.Phe43fs) rs36029927
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.129del (p.Phe43fs) rs33979901
NM_000518.5(HBB):c.129dup (p.Glu44Ter) rs33979901
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.130dup (p.Glu44fs) rs1554917970
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.138del (p.Phe46fs) rs35133315
NM_000518.5(HBB):c.138dup (p.Gly47fs) rs35133315
NM_000518.5(HBB):c.142dup (p.Asp48fs) rs1847563072
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) rs35619054
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.146del (p.Leu49fs) rs1847562491
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.150del (p.Thr51fs) rs1847562189
NM_000518.5(HBB):c.153del (p.Pro52fs) rs1847561978
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.158del (p.Asp53fs) rs1847561467
NM_000518.5(HBB):c.161C>T (p.Ala54Val)
NM_000518.5(HBB):c.163dup (p.Val55fs) rs35165357
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) rs1564875331
NM_000518.5(HBB):c.165_177del (p.Met56fs) rs1847559573
NM_000518.5(HBB):c.165del (p.Met56fs) rs34960334
NM_000518.5(HBB):c.166del (p.Met56fs) rs1847560717
NM_000518.5(HBB):c.166dup (p.Met56fs) rs35171933
NM_000518.5(HBB):c.167T>C (p.Met56Thr) rs35094013
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.170_171insGCAACCCTAAGGTG (p.Gly57_Asn58insGlnProTer) rs1847560327
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.176dup (p.Pro59_Lys60insTer) rs35395625
NM_000518.5(HBB):c.178A>T (p.Lys60Ter) rs33969400
NM_000518.5(HBB):c.179del (p.Lys60fs) rs267607293
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.187_251dup (p.Thr85fs) rs1847554565
NM_000518.5(HBB):c.189_195del (p.His64fs) rs1847558511
NM_000518.5(HBB):c.18_19del (p.Glu7fs) rs281864519
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.194del (p.Gly65fs) rs36107977
NM_000518.5(HBB):c.199A>T (p.Lys67Ter) rs34165323
NM_000518.5(HBB):c.19G>T (p.Glu7Ter) rs33930165
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
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.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.206_212del (p.Leu69fs) rs1847557333
NM_000518.5(HBB):c.209del (p.Gly70fs) rs1847557540
NM_000518.5(HBB):c.20_32del (p.Glu7fs) rs1847586938
NM_000518.5(HBB):c.20_45del (p.Glu7fs) rs1847585652
NM_000518.5(HBB):c.210del (p.Ala71fs) rs1847557422
NM_000518.5(HBB):c.216del (p.Phe72fs) rs1554917888
NM_000518.5(HBB):c.216dup (p.Ser73Ter) rs1554917888
NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs) rs63751218
NM_000518.5(HBB):c.219dup (p.Asp74Ter) rs281864520
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.229_230del (p.Ala77fs) rs281864906
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) rs34948328
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.232del (p.His78fs) rs63750504
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.235dup (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.237G>C (p.Leu79=) rs1847555518
NM_000518.5(HBB):c.237_256del (p.Asp80fs) rs1847554171
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) rs63750519
NM_000518.5(HBB):c.244_265del (p.Asn81_Leu82insTer) rs1847553585
NM_000518.5(HBB):c.244del (p.Leu82fs) rs1847555115
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.24dup (p.Lys9fs) rs1847587799
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.253_260del (p.Thr85fs) rs1847553982
NM_000518.5(HBB):c.255dup (p.Phe86fs) rs35371965
NM_000518.5(HBB):c.258dup (p.Ala87fs) rs34831847
NM_000518.5(HBB):c.265_266del (p.Leu89fs) rs1847553498
NM_000518.5(HBB):c.266_267del (p.Leu89fs) rs1847553344
NM_000518.5(HBB):c.266dup (p.Ser90fs) rs34477959
NM_000518.5(HBB):c.269del (p.Ser90fs) rs2133587981
NM_000518.5(HBB):c.270_271del (p.Ser90fs) rs34466953
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup) rs1847551520
NM_000518.5(HBB):c.275dup (p.His93fs) rs1847552816
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs) rs1847587392
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) rs34533941
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.28_29insTA (p.Ser10fs) rs1847587286
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
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.30dup (p.Ala11fs) rs34548294
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.33del (p.Val12fs) rs1554918214
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.3G>C (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.3G>T (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.40G>A (p.Ala14Thr) rs766266418
NM_000518.5(HBB):c.44del (p.Leu15fs) rs1847585864
NM_000518.5(HBB):c.44dup (p.Trp16fs) rs1847585812
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.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.4del (p.Val2fs) rs63750475
NM_000518.5(HBB):c.50del (p.Gly17fs) rs1847584946
NM_000518.5(HBB):c.50dup (p.Lys18fs) rs1847584946
NM_000518.5(HBB):c.56T>G (p.Val19Gly) rs35382661
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.64dup (p.Asp22fs) rs1554918165
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.72T>A (p.Val24=) rs2133589317
NM_000518.5(HBB):c.74del (p.Gly25fs) rs1847582194
NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs) rs281864899
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.78dup (p.Glu27Ter) rs35619688
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.85del (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.89del (p.Gly30fs) rs267607295
NM_000518.5(HBB):c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT (p.His3_Pro6delinsProGluValLysSerAlaTer) rs1847588699
NM_000518.5(HBB):c.8del (p.His3fs) rs1847589398
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.91A>G (p.Arg31Gly) rs35684407
NM_000518.5(HBB):c.91del (p.Arg31fs) rs1847579861
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.92+1G>C 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>G rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.92_94dup (p.Arg31dup) rs35348864
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.93-21_96del rs63750223
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-2A>G rs63750513
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.93-6C>T rs1554918048
NM_000518.5(HBB):c.93G>C (p.Arg31Ser) rs1135071
NM_000518.5(HBB):c.94del (p.Leu32fs) rs63749977
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) rs35699671
NM_000518.5(HBB):c.[17del;9dup]

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