ClinVar Miner

List of variants studied for beta-thalassemia HBB/LCRB by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP
NC_000011.10:g.(?_5246695)_(5248302_?)del
NC_000011.10:g.5227142G>A rs281864518
NC_000011.10:g.5246486_5247105delinsTCTACTT
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.287dupA (p.Leu97Alafs) rs34937014
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.4:c.[316-12T>C;316-7C>A]
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-133G>A rs72561473
NM_000518.5(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.-151C>T rs63751208
NM_000518.5(HBB):c.-15C>A rs193922550
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-50A>C rs34305195
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.-92C>G rs397515291
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
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.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
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)
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-150C>G rs193922556
NM_000518.5(HBB):c.316-184T>C rs193922557
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011
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.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.92+1G>A 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>C rs33956879
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.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000518.5(HBB):c.93-21_96del rs63750223
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000518.5(HBB):c.93-3T>G rs34527846

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