ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
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
NM_000518.4(HBB):c.-133G>A rs72561473 0.00312
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000518.4(HBB):c.-51T>C rs386134236 0.00041
NM_000518.5(HBB):c.92+47T>G rs369341845 0.00040
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NC_000011.10:g.5227246C>T rs565478698 0.00034
NM_000518.4(HBB):c.-248A>G rs76306358 0.00031
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
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.207C>T (p.Leu69=) rs112287010 0.00016
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+26T>C rs1035809053 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_000518.5(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
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.108C>T (p.Tyr36=) rs33982568 0.00003
NM_000518.5(HBB):c.33C>T (p.Ala11=) rs35799536 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000518.5(HBB):c.93-27C>T rs376272324 0.00003
NM_000518.5(HBB):c.156T>C (p.Pro52=) rs762111851 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 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.92+28T>C rs565131043 0.00002
NM_000518.5(HBB):c.92+36C>A rs776904725 0.00002
NM_000518.5(HBB):c.92+39A>G rs372716225 0.00002
NM_000518.5(HBB):c.93-18C>T rs777028217 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
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.159T>C (p.Asp53=) rs777114006 0.00001
NM_000518.5(HBB):c.165T>C (p.Val55=) rs760975738 0.00001
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551 0.00001
NM_000518.5(HBB):c.174C>T (p.Asn58=) rs35278874 0.00001
NM_000518.5(HBB):c.201A>G (p.Lys67=) rs36092904 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.27G>A (p.Lys9=) rs35198910 0.00001
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573 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.6G>T (p.Val2=) rs1349384278 0.00001
NM_000518.5(HBB):c.78T>G (p.Gly26=) rs373379910 0.00001
NM_000518.5(HBB):c.90C>A (p.Gly30=) rs35578002 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+37C>A rs372467642 0.00001
NM_000518.5(HBB):c.92+40T>C rs375672426 0.00001
NM_000518.5(HBB):c.92+45A>G rs773415134 0.00001
NM_000518.5(HBB):c.92+48G>A rs372778054 0.00001
NM_000518.5(HBB):c.92+53T>C rs1847576718 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000518.5(HBB):c.92+61C>T rs747160822 0.00001
NM_000518.5(HBB):c.93-15T>C rs35456885 0.00001
NM_000518.5(HBB):c.93-24A>G rs773687221 0.00001
NM_000518.5(HBB):c.93-28G>C rs1564875652 0.00001
NM_000518.5(HBB):c.93-34C>G rs763696976 0.00001
NM_000518.5(HBB):c.93-46T>C rs373538213 0.00001
NM_000518.5(HBB):c.96G>T (p.Leu32=) rs778841729 0.00001
NC_000011.10:g.5226755_5227283del
NC_000011.10:g.5226995_5227524del
NC_000011.10:g.5227197G>A
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-137C>T rs33941377
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.-8C>G rs1319747765
NM_000518.5(HBB):c.102G>A (p.Val34=)
NM_000518.5(HBB):c.102G>T (p.Val34=)
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.111T>G (p.Pro37=)
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.117C>T (p.Thr39=) rs1847565822
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.129T>C (p.Phe43=) rs1554917971
NM_000518.5(HBB):c.12G>C (p.Leu4=) rs1589893645
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.141G>A (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.141G>C (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) rs35619054
NM_000518.5(HBB):c.147G>C (p.Leu49=)
NM_000518.5(HBB):c.150C>A (p.Ser50=) rs2133588564
NM_000518.5(HBB):c.150C>T (p.Ser50=) rs2133588564
NM_000518.5(HBB):c.171C>A (p.Gly57=)
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.18T>C (p.Pro6=) rs2133589583
NM_000518.5(HBB):c.195C>G (p.Gly65=) rs2133588365
NM_000518.5(HBB):c.195C>T (p.Gly65=)
NM_000518.5(HBB):c.196A>T (p.Lys66Ter) rs35353749
NM_000518.5(HBB):c.198G>A (p.Lys66=)
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.210T>A (p.Gly70=) rs2133588276
NM_000518.5(HBB):c.213C>T (p.Ala71=)
NM_000518.5(HBB):c.21G>A (p.Glu7=) rs1589893600
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) rs1564875128
NM_000518.5(HBB):c.225C>G (p.Gly75=) rs1184506313
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.234C>T (p.His78=) rs33918483
NM_000518.5(HBB):c.237G>T (p.Leu79=)
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.246C>T (p.Leu82=)
NM_000518.5(HBB):c.249G>A (p.Lys83=)
NM_000518.5(HBB):c.24G>A (p.Glu8=)
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.252C>A (p.Gly84=) rs2133588069
NM_000518.5(HBB):c.252C>T (p.Gly84=)
NM_000518.5(HBB):c.255C>A (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.255C>T (p.Thr85=) rs1334966870
NM_000518.5(HBB):c.258T>C (p.Phe86=) rs2133588043
NM_000518.5(HBB):c.261C>T (p.Ala87=) rs1367496536
NM_000518.5(HBB):c.265C>T (p.Leu89=)
NM_000518.5(HBB):c.267G>A (p.Leu89=)
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.273G>A (p.Glu91=) rs35002698
NM_000518.5(HBB):c.276G>A (p.Leu92=)
NM_000518.5(HBB):c.279C>T (p.His93=) rs34083951
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.282T>C (p.Cys94=)
NM_000518.5(HBB):c.285C>T (p.Asp95=)
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.288G>A (p.Lys96=) rs36038739
NM_000518.5(HBB):c.289C>T (p.Leu97=) rs34665886
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.300T>C (p.Asp100=) rs34013622
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.39T>C (p.Thr13=) rs1554918207
NM_000518.5(HBB):c.45G>T (p.Leu15=)
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.54G>A (p.Lys18=) rs36006214
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
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.6G>A (p.Val2=) rs1349384278
NM_000518.5(HBB):c.74del (p.Gly25fs) rs1847582194
NM_000518.5(HBB):c.78T>C (p.Gly26=) rs373379910
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.84C>A (p.Ala28=)
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.87G>A (p.Leu29=) rs1191121382
NM_000518.5(HBB):c.92+10A>C
NM_000518.5(HBB):c.92+12G>A rs2133589140
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.92+15T>C rs2133589130
NM_000518.5(HBB):c.92+17C>T rs1308676559
NM_000518.5(HBB):c.92+18A>G rs2133589125
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+21A>G
NM_000518.5(HBB):c.92+22C>A
NM_000518.5(HBB):c.92+22C>G rs1232883523
NM_000518.5(HBB):c.92+22C>T
NM_000518.5(HBB):c.92+24G>C rs1847578084
NM_000518.5(HBB):c.92+25G>A
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+32G>A
NM_000518.5(HBB):c.92+35A>G rs1847577579
NM_000518.5(HBB):c.92+35_92+36insATAGAATG rs781015056
NM_000518.5(HBB):c.92+36C>T
NM_000518.5(HBB):c.92+40T>A rs375672426
NM_000518.5(HBB):c.92+41A>G rs1847577181
NM_000518.5(HBB):c.92+43A>C
NM_000518.5(HBB):c.92+46C>T rs1847576979
NM_000518.5(HBB):c.92+48G>C rs372778054
NM_000518.5(HBB):c.92+49G>A rs2133589046
NM_000518.5(HBB):c.92+50G>A rs377447760
NM_000518.5(HBB):c.92+54G>C rs1847576671
NM_000518.5(HBB):c.92+57G>A rs962266675
NM_000518.5(HBB):c.92+57G>C rs962266675
NM_000518.5(HBB):c.92+57G>T rs962266675
NM_000518.5(HBB):c.92+58A>G rs1847576487
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92+61C>G rs747160822
NM_000518.5(HBB):c.92+62A>T rs988935334
NM_000518.5(HBB):c.92+64A>C rs2133589016
NM_000518.5(HBB):c.92+64A>G
NM_000518.5(HBB):c.92+65G>A
NM_000518.5(HBB):c.92+65G>T
NM_000518.5(HBB):c.92+7A>G rs63750195
NM_000518.5(HBB):c.92+8T>C rs374373297
NM_000518.5(HBB):c.92+9C>T rs374317172
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-14T>C rs1428777319
NM_000518.5(HBB):c.93-16A>G rs1480884739
NM_000518.5(HBB):c.93-17T>C rs1176965004
NM_000518.5(HBB):c.93-18C>G
NM_000518.5(HBB):c.93-19T>C
NM_000518.5(HBB):c.93-19T>G rs1451581925
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-24_93-23del rs1385066437
NM_000518.5(HBB):c.93-27C>A
NM_000518.5(HBB):c.93-27C>G
NM_000518.5(HBB):c.93-28G>T
NM_000518.5(HBB):c.93-30C>G rs752175922
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000518.5(HBB):c.93-31T>G
NM_000518.5(HBB):c.93-32C>T rs1372536490
NM_000518.5(HBB):c.93-33_101del
NM_000518.5(HBB):c.93-33_96delinsACTGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
NM_000518.5(HBB):c.93-34C>T rs763696976
NM_000518.5(HBB):c.93-36C>T
NM_000518.5(HBB):c.93-36CT[2] rs746824976
NM_000518.5(HBB):c.93-38G>A
NM_000518.5(HBB):c.93-39T>C
NM_000518.5(HBB):c.93-40C>A rs556727592
NM_000518.5(HBB):c.93-41A>C rs1847575815
NM_000518.5(HBB):c.93-41A>G
NM_000518.5(HBB):c.93-44G>C
NM_000518.5(HBB):c.93-46T>A rs373538213
NM_000518.5(HBB):c.93-55G>A rs1186575711
NM_000518.5(HBB):c.93-55G>C
NM_000518.5(HBB):c.93-59C>T rs1847576219
NM_000518.5(HBB):c.93-5C>G
NM_000518.5(HBB):c.93-5C>T rs1205031264
NM_000518.5(HBB):c.93-61C>A
NM_000518.5(HBB):c.93-62A>T
NM_000518.5(HBB):c.93-64A>G rs2133589012
NM_000518.5(HBB):c.93-65_93-64del
NM_000518.5(HBB):c.93-6C>T rs1554918048
NM_000518.5(HBB):c.93-7C>A rs2133588899
NM_000518.5(HBB):c.93-9C>G
NM_000518.5(HBB):c.93-9dup
NM_000518.5(HBB):c.9_10delinsCT (p.His3_Leu4=) rs2133589628

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