ClinVar Miner

List of variants studied for alpha thalassemia

Included ClinVar conditions (6):
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ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.-43G>C rs71382271 1.00000
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
NM_000517.4(HBA2):c.*136A>G rs2685121 0.86184
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_000517.6(HBA2):c.-24C>G rs772829778 0.06872
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
NM_000558.5(HBA1):c.300+55G>T rs148228241 0.01925
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_000558.5(HBA1):c.95+39C>T rs577938658 0.01700
NM_000558.5(HBA1):c.*46C>A rs141514155 0.01440
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000558.5(HBA1):c.-42C>T rs370305736 0.00968
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000558.5(HBA1):c.396T>C (p.Ser132=) rs149264789 0.00085
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_000558.5(HBA1):c.301-9T>C rs368241947 0.00013
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 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_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000517.6(HBA2):c.60del (p.His21fs) rs886041399 0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159 0.00006
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
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_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000517.6(HBA2):c.143del (p.Asp48fs) rs281864539 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146 0.00001
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) rs33987053 0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 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
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
GRCh37/hg19 16p13.3(chr16:176680-177522)x1
GRCh37/hg19 16p13.3(chr16:215947-231157)x1
GRCh37/hg19 16p13.3(chr16:216075-231021)
GRCh37/hg19 16p13.3(chr16:221962-228406)
NC_000011.10:g.5226570_5233984del
NC_000016.10:g.(168531_169756)_(182770_183028)del
NC_000016.10:g.(169756_170100)_(179044_181595)del
NC_000016.10:g.(?_151209)_(182142_?)del
NC_000016.10:g.(?_169780)_(182142_?)del
NC_000016.10:g.147601_179801del
NC_000016.10:g.147937_179144del
NC_000016.10:g.150002_180002del
NC_000016.10:g.151479_182582del
NC_000016.10:g.158101_179001del
NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA
NC_000016.10:g.171847_181556del
NC_000016.10:g.172001_181401del
NC_000016.10:g.172005_177200del
NC_000016.10:g.172832C>A rs1596569257
NC_000016.10:g.173384_177187del
NC_000016.10:g.176177_176301del rs1902124319
NG_000006.1:g.24664_41064del16401
NM_000517.4(HBA2):c.-59C>T rs1277780626
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) rs41464951
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) rs41412046
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*47G>A rs4021971
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp) rs281864846
NM_000517.6(HBA2):c.1A>G (p.Met1Val) rs121909803
NM_000517.6(HBA2):c.1del (p.Met1fs) rs587776828
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.245C>T (p.Ser82Phe) rs281864864
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn) rs281860604
NM_000517.6(HBA2):c.268_280del (p.His90fs) rs1596570041
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.300+1G>A
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) rs1263969213
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.329T>G (p.Leu110Arg) rs41479844
NM_000517.6(HBA2):c.358C>G (p.Pro120Ala) rs1262943621
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.377T>A (p.Leu126Gln) rs41397847
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.46G>T (p.Gly16Cys) rs281864811
NM_000517.6(HBA2):c.54del (p.Gly19fs) rs1902037470
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys) rs281864819
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819
NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp) rs281864821
NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys) rs1902038723
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly) rs281864823
NM_000517.6(HBA2):c.94_95del (p.Arg32fs) rs1057519637
NM_000517.6(HBA2):c.95+11_95+34del rs1445188229
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
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.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.4(HBA1):c.-286C>G
NM_000558.5(HBA1):c.-37A>C
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg) rs1318437795
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg) rs281864895
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000558.5(HBA1):c.188_190del (p.Val63del) rs35672478
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.257A>T (p.Asp86Val) rs1902160217
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
NM_000558.5(HBA1):c.2T>G (p.Met1Arg) rs1316527998
NM_000558.5(HBA1):c.2del (p.Met1fs) rs1298047912
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.396dup (p.Val133fs) rs34021271
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg) rs33964317
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507
NM_005332.2(HBZ):c.330_*22601del
Single allele

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