ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
Download table as spreadsheet
HGVS dbSNP
NM_000518.4(HBB):c.108del (p.Pro37Leufs) rs267607297
NM_000518.4(HBB):c.112delT (p.Trp38Glyfs) rs63750532
NM_000518.4(HBB):c.114_120delGACCCAG (p.Trp38Terfs) rs63750099
NM_000518.4(HBB):c.116_117del (p.Gln40Glufs) rs267607291
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.127_129delTTT (p.Phe43del) rs41417446
NM_000518.4(HBB):c.135delC (p.Phe46Leufs) rs80356820
NM_000518.4(HBB):c.143_144insA (p.Asp48Glufs) rs35894115
NM_000518.4(HBB):c.17_18delCT (p.Pro6Argfs) rs34889882
NM_000518.4(HBB):c.182T>A (p.Val61Glu) rs33931779
NM_000518.4(HBB):c.193del (p.Gly65Alafs) rs36107977
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.203T>A (p.Val68Glu) rs33918343
NM_000518.4(HBB):c.206T>A (p.Leu69His) rs33972593
NM_000518.4(HBB):c.20delA (p.Glu7Glyfs) rs63749819
NM_000518.4(HBB):c.230delC (p.Ala77Valfs) rs281864901
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.249G>Y (p.Lys83Asn) rs33991993
NM_000518.4(HBB):c.25_26delAA (p.Lys9Valfs) rs35497102
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.277C>A (p.His93Asn) rs33924775
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.283G>C (p.Asp95His) rs33959340
NM_000518.4(HBB):c.293A>T (p.His98Leu) rs33951978
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.36delT (p.Thr13Leufs) rs34856846
NM_000518.4(HBB):c.4del (p.Val2Cysfs) rs63750475
NM_000518.4(HBB):c.51delC (p.Lys18Argfs) rs35662066
NM_000518.4(HBB):c.70G>T (p.Val24Phe) rs33929459
NM_000518.4(HBB):c.70_72delGTT (p.Val24del) rs34160180
NM_000518.4(HBB):c.76_92+27del44 rs63751076
NM_000518.4(HBB):c.80A>G (p.Glu27Gly) rs33915112
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.4(HBB):c.93-17_93-1del17 rs1554918032
NM_000518.4(HBB):c.93-22_95del25 rs193922563
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_000518.5(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.-137C>G rs33941377
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.-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.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) rs33924146
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.176C>G (p.Pro59Arg) rs33991472
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) rs34165323
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.216dup (p.Ser73Terfs) rs1554917888
NM_000518.5(HBB):c.217_221delAGTGAinsT (p.Ser73Leufs) rs63751218
NM_000518.5(HBB):c.217dup (p.Ser73Lysfs) rs33969853
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) rs34948328
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) rs35693898
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) rs35351128
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.283_284insTG (p.Asp95Valfs) rs34533941
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
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.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.45dup (p.Trp16Valfs) rs35383398
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.4G>T (p.Val2Leu) rs33958358
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.79_80insT (p.Glu27Valfs) rs35477349
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29Profs) rs35532010
NM_000518.5(HBB):c.8A>C (p.His3Pro) rs33983205
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
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>C rs35724775
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071
NM_000518.5(HBB):c.93_94insCGG (p.Arg31_Leu32insArg) rs35348864
NP_000509.1:p.His93Gln rs34083951
NP_000509.1:p.His98Gln rs34515413

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.