ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP
NC_000011.10:g.(?_5225365)_(5225905_?)del
NC_000011.10:g.5225302A>G rs570662275
NC_000011.10:g.5225352T>C rs111465890
NC_000011.10:g.5225416C>T rs113969885
NC_000011.10:g.5225460A>C rs560643693
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*132+101G>C rs12788013
NM_000518.5(HBB):c.*132+99T>C rs567259408
NM_000518.5(HBB):c.*34G>A
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.315+100G>A
NM_000518.5(HBB):c.315+100G>C
NM_000518.5(HBB):c.315+109C>T rs543925348
NM_000518.5(HBB):c.315+115A>T
NM_000518.5(HBB):c.315+116T>C
NM_000518.5(HBB):c.315+118G>C rs1302097141
NM_000518.5(HBB):c.315+125T>A
NM_000518.5(HBB):c.315+125T>C rs1053188095
NM_000518.5(HBB):c.315+127T>C
NM_000518.5(HBB):c.315+129G>A
NM_000518.5(HBB):c.315+132G>C rs1329253876
NM_000518.5(HBB):c.315+139G>A rs1589892116
NM_000518.5(HBB):c.315+139G>C
NM_000518.5(HBB):c.315+140A>G
NM_000518.5(HBB):c.315+142C>T rs934286084
NM_000518.5(HBB):c.315+143G>A
NM_000518.5(HBB):c.315+143G>C
NM_000518.5(HBB):c.315+143G>T
NM_000518.5(HBB):c.315+147_315+152del
NM_000518.5(HBB):c.315+149G>A
NM_000518.5(HBB):c.315+153_315+157del
NM_000518.5(HBB):c.315+156T>C rs981149711
NM_000518.5(HBB):c.315+158A>T
NM_000518.5(HBB):c.315+15C>T rs756567448
NM_000518.5(HBB):c.315+160T>C
NM_000518.5(HBB):c.315+165G>A
NM_000518.5(HBB):c.315+169A>G
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.315+16G>T
NM_000518.5(HBB):c.315+171A>G rs996301151
NM_000518.5(HBB):c.315+174A>G
NM_000518.5(HBB):c.315+175A>T rs973955533
NM_000518.5(HBB):c.315+180T>C rs529931134
NM_000518.5(HBB):c.315+183C>A
NM_000518.5(HBB):c.315+183_315+187del
NM_000518.5(HBB):c.315+184T>C
NM_000518.5(HBB):c.315+189T>C rs1589892094
NM_000518.5(HBB):c.315+195T>C
NM_000518.5(HBB):c.315+198del rs1589892087
NM_000518.5(HBB):c.315+202T>C
NM_000518.5(HBB):c.315+203T>C rs1042051118
NM_000518.5(HBB):c.315+204_315+207del rs375849787
NM_000518.5(HBB):c.315+204_315+208del rs892829819
NM_000518.5(HBB):c.315+205T>G rs1589892081
NM_000518.5(HBB):c.315+205dup
NM_000518.5(HBB):c.315+207T>A rs1589892074
NM_000518.5(HBB):c.315+211T>C
NM_000518.5(HBB):c.315+211T>G
NM_000518.5(HBB):c.315+212T>G
NM_000518.5(HBB):c.315+213T>A
NM_000518.5(HBB):c.315+213T>C
NM_000518.5(HBB):c.315+213del
NM_000518.5(HBB):c.315+220C>T rs113152027
NM_000518.5(HBB):c.315+221G>A rs753003330
NM_000518.5(HBB):c.315+232T>C
NM_000518.5(HBB):c.315+234T>A
NM_000518.5(HBB):c.315+235T>G
NM_000518.5(HBB):c.315+237T>A
NM_000518.5(HBB):c.315+246C>A
NM_000518.5(HBB):c.315+246C>G
NM_000518.5(HBB):c.315+254T>C
NM_000518.5(HBB):c.315+255T>C
NM_000518.5(HBB):c.315+258G>A
NM_000518.5(HBB):c.315+260A>G rs111415391
NM_000518.5(HBB):c.315+261T>C
NM_000518.5(HBB):c.315+265A>G
NM_000518.5(HBB):c.315+269_315+270del
NM_000518.5(HBB):c.315+26T>G rs368604295
NM_000518.5(HBB):c.315+272A>G rs1589892008
NM_000518.5(HBB):c.315+277C>A
NM_000518.5(HBB):c.315+283G>C
NM_000518.5(HBB):c.315+285T>C
NM_000518.5(HBB):c.315+287C>T
NM_000518.5(HBB):c.315+28C>G
NM_000518.5(HBB):c.315+290T>G
NM_000518.5(HBB):c.315+292A>C
NM_000518.5(HBB):c.315+293G>A rs1320832744
NM_000518.5(HBB):c.315+300A>G
NM_000518.5(HBB):c.315+300dup
NM_000518.5(HBB):c.315+306A>T
NM_000518.5(HBB):c.315+306_315+308del
NM_000518.5(HBB):c.315+308del rs1020110937
NM_000518.5(HBB):c.315+310T>C
NM_000518.5(HBB):c.315+312T>C
NM_000518.5(HBB):c.315+316C>T
NM_000518.5(HBB):c.315+316_315+317del
NM_000518.5(HBB):c.315+317A>C
NM_000518.5(HBB):c.315+317A>G
NM_000518.5(HBB):c.315+325T>G
NM_000518.5(HBB):c.315+327G>A
NM_000518.5(HBB):c.315+331A>C
NM_000518.5(HBB):c.315+332T>G rs531567967
NM_000518.5(HBB):c.315+334A>C rs1055395965
NM_000518.5(HBB):c.315+335C>G rs1589891972
NM_000518.5(HBB):c.315+335C>T
NM_000518.5(HBB):c.315+337A>G rs561258571
NM_000518.5(HBB):c.315+339T>A
NM_000518.5(HBB):c.315+349T>C
NM_000518.5(HBB):c.315+34C>T rs759795721
NM_000518.5(HBB):c.315+354G>A
NM_000518.5(HBB):c.315+362G>A rs1589891959
NM_000518.5(HBB):c.315+364A>G
NM_000518.5(HBB):c.315+368T>G
NM_000518.5(HBB):c.315+377C>T rs182729393
NM_000518.5(HBB):c.315+380T>C rs190369729
NM_000518.5(HBB):c.315+387T>C
NM_000518.5(HBB):c.315+391C>A
NM_000518.5(HBB):c.315+391_315+395del
NM_000518.5(HBB):c.315+394T>G
NM_000518.5(HBB):c.315+395T>C
NM_000518.5(HBB):c.315+396A>G
NM_000518.5(HBB):c.315+408T>C rs1323342312
NM_000518.5(HBB):c.315+410C>A
NM_000518.5(HBB):c.315+414A>C
NM_000518.5(HBB):c.315+41T>A
NM_000518.5(HBB):c.315+421T>C rs1250042245
NM_000518.5(HBB):c.315+425T>C rs922176223
NM_000518.5(HBB):c.315+48G>T
NM_000518.5(HBB):c.315+55T>A
NM_000518.5(HBB):c.315+58T>C
NM_000518.5(HBB):c.315+63T>C
NM_000518.5(HBB):c.315+69G>A
NM_000518.5(HBB):c.315+70G>C rs373152208
NM_000518.5(HBB):c.315+71G>A
NM_000518.5(HBB):c.315+73A>T
NM_000518.5(HBB):c.315+74T>C
NM_000518.5(HBB):c.315+74T>G rs7480526
NM_000518.5(HBB):c.315+76A>C
NM_000518.5(HBB):c.315+77G>A
NM_000518.5(HBB):c.315+77G>T
NM_000518.5(HBB):c.315+80A>T rs1589892172
NM_000518.5(HBB):c.315+81C>A
NM_000518.5(HBB):c.315+81C>T rs7946748
NM_000518.5(HBB):c.315+85G>A
NM_000518.5(HBB):c.315+90G>A
NM_000518.5(HBB):c.315+9A>G
NM_000518.5(HBB):c.316-100T>A
NM_000518.5(HBB):c.316-102C>A rs1468940510
NM_000518.5(HBB):c.316-104A>T
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-109C>T rs1554917650
NM_000518.5(HBB):c.316-10C>A
NM_000518.5(HBB):c.316-112A>G
NM_000518.5(HBB):c.316-114C>A rs1003790835
NM_000518.5(HBB):c.316-114C>T rs1003790835
NM_000518.5(HBB):c.316-115dup
NM_000518.5(HBB):c.316-11T>C
NM_000518.5(HBB):c.316-120C>G rs1589891720
NM_000518.5(HBB):c.316-124A>T rs1184042209
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.316-129T>C
NM_000518.5(HBB):c.316-12T>C rs781604042
NM_000518.5(HBB):c.316-130T>C rs956857115
NM_000518.5(HBB):c.316-138G>A rs1444028845
NM_000518.5(HBB):c.316-145G>A rs1005042281
NM_000518.5(HBB):c.316-145G>C
NM_000518.5(HBB):c.316-147A>C rs1415697390
NM_000518.5(HBB):c.316-147A>T
NM_000518.5(HBB):c.316-148G>C
NM_000518.5(HBB):c.316-149_*132del rs1589891039
NM_000518.5(HBB):c.316-150C>A rs193922556
NM_000518.5(HBB):c.316-152A>T rs1589891751
NM_000518.5(HBB):c.316-153T>C
NM_000518.5(HBB):c.316-159A>C
NM_000518.5(HBB):c.316-15A>G
NM_000518.5(HBB):c.316-177A>C rs964085975
NM_000518.5(HBB):c.316-179A>C rs185607297
NM_000518.5(HBB):c.316-184T>C rs193922557
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.316-188T>C rs1589891780
NM_000518.5(HBB):c.316-189A>G rs1034207896
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-198G>A
NM_000518.5(HBB):c.316-198G>T
NM_000518.5(HBB):c.316-19T>A rs191535077
NM_000518.5(HBB):c.316-204G>C
NM_000518.5(HBB):c.316-217T>C rs1589891794
NM_000518.5(HBB):c.316-219_316-218del
NM_000518.5(HBB):c.316-223T>A
NM_000518.5(HBB):c.316-224A>G
NM_000518.5(HBB):c.316-229A>G
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-239G>C
NM_000518.5(HBB):c.316-244T>A
NM_000518.5(HBB):c.316-246C>T rs1589891810
NM_000518.5(HBB):c.316-249A>G
NM_000518.5(HBB):c.316-258C>A
NM_000518.5(HBB):c.316-261A>T
NM_000518.5(HBB):c.316-265A>G
NM_000518.5(HBB):c.316-26T>G rs1589891645
NM_000518.5(HBB):c.316-272G>C rs773343845
NM_000518.5(HBB):c.316-272G>T
NM_000518.5(HBB):c.316-278C>T
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-282C>G
NM_000518.5(HBB):c.316-28G>A rs771736852
NM_000518.5(HBB):c.316-290C>A
NM_000518.5(HBB):c.316-290_316-289insGGGCAATAATTT
NM_000518.5(HBB):c.316-292del rs1170203019
NM_000518.5(HBB):c.316-295C>T rs569636767
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-304T>A
NM_000518.5(HBB):c.316-30A>C rs193922558
NM_000518.5(HBB):c.316-315del
NM_000518.5(HBB):c.316-31C>T
NM_000518.5(HBB):c.316-323T>C rs1589891857
NM_000518.5(HBB):c.316-325T>C
NM_000518.5(HBB):c.316-332C>T
NM_000518.5(HBB):c.316-335C>T
NM_000518.5(HBB):c.316-336del
NM_000518.5(HBB):c.316-337T>G
NM_000518.5(HBB):c.316-339C>T
NM_000518.5(HBB):c.316-341T>C rs1200755137
NM_000518.5(HBB):c.316-347A>T
NM_000518.5(HBB):c.316-356T>C
NM_000518.5(HBB):c.316-358T>A
NM_000518.5(HBB):c.316-359A>G
NM_000518.5(HBB):c.316-361G>T
NM_000518.5(HBB):c.316-362T>A
NM_000518.5(HBB):c.316-363T>C
NM_000518.5(HBB):c.316-368T>G rs1589891884
NM_000518.5(HBB):c.316-36C>T rs908362696
NM_000518.5(HBB):c.316-370G>C
NM_000518.5(HBB):c.316-373C>A rs78815705
NM_000518.5(HBB):c.316-378C>T
NM_000518.5(HBB):c.316-379C>A
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-381G>A rs1045462228
NM_000518.5(HBB):c.316-383T>C
NM_000518.5(HBB):c.316-386A>G
NM_000518.5(HBB):c.316-387C>A
NM_000518.5(HBB):c.316-387C>T
NM_000518.5(HBB):c.316-389C>T
NM_000518.5(HBB):c.316-397T>A
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-400T>A
NM_000518.5(HBB):c.316-400T>C
NM_000518.5(HBB):c.316-405T>A
NM_000518.5(HBB):c.316-405T>C
NM_000518.5(HBB):c.316-407A>C
NM_000518.5(HBB):c.316-411G>C
NM_000518.5(HBB):c.316-415T>G
NM_000518.5(HBB):c.316-417G>A
NM_000518.5(HBB):c.316-418G>A
NM_000518.5(HBB):c.316-42C>T rs761649200
NM_000518.5(HBB):c.316-42del
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-62T>C
NM_000518.5(HBB):c.316-66A>G
NM_000518.5(HBB):c.316-67G>C
NM_000518.5(HBB):c.316-68G>T
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.316-71G>T rs1589891689
NM_000518.5(HBB):c.316-77G>C
NM_000518.5(HBB):c.316-80T>C
NM_000518.5(HBB):c.316-95C>T rs1589891699
NM_000518.5(HBB):c.316-96G>C rs193922561
NM_000518.5(HBB):c.316-99T>G
NM_000518.5(HBB):c.316-99del
NM_000518.5(HBB):c.316_*132del (p.Leu106_Ter148del)
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751
NM_000518.5(HBB):c.330G>A (p.Val110=)
NM_000518.5(HBB):c.363A>G (p.Lys121=)
NM_000518.5(HBB):c.381G>A (p.Val127=)
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.426G>T (p.Leu142=)
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563
NM_000518.5(HBB):c.435G>A (p.Lys145=)

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