ClinVar Miner

List of variants in gene HBB, LOC107133510, LOC110006319 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NC_000011.10:g.5225365C>G rs12788013 0.10429
NM_000518.5(HBB):c.316-373C>A rs78815705 0.02031
NC_000011.10:g.5225416C>T rs113969885 0.01596
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000518.5(HBB):c.315+26T>G rs368604295 0.00234
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.316-272G>C rs773343845 0.00006
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 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.316-7C>A rs34483965 0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.316-150C>G rs193922556 0.00002
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.5(HBB):c.*104G>A rs1564873881 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.*18C>A rs1348310843 0.00001
NM_000518.5(HBB):c.*53C>A rs886048393 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.316-184T>C rs193922557 0.00001
NM_000518.5(HBB):c.316-238C>T rs558554234 0.00001
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751 0.00001
NM_000518.5(HBB):c.384G>C (p.Gln128His) rs1437278962 0.00001
Hb Little Rock rs36020563
NC_000011.10:g.5218346_5226066del
NC_000011.10:g.5225256_5225875delinsTCTACTT rs1847513733
NM_000518.4(HBB):c.316-281_*209del619 rs1847516043
NM_000518.4(HBB):c.320T>A (p.Leu107Gln) rs33941844
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) rs33910569
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.422C>T (p.Ala141Val) rs33927093
NM_000518.4(HBB):c.428C>A (p.Ala143Asp) rs33921821
NM_000518.4(HBB):c.439C>G (p.His147Asp) rs33961444
NM_000518.4(HBB):c.440A>C (p.His147Pro) rs33954264
NM_000518.4(HBB):c.440A>T (p.His147Leu) rs33954264
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
NM_000518.5(HBB):c.*108A>G rs1847518799
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*110_*114del rs35949130
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*115_*116del rs281864532
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000518.5(HBB):c.*32A>C rs1847520793
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G rs1345009528
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.*93_*105del rs34171453
NM_000518.5(HBB):c.315+255T>C rs1847544780
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>C rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-1del rs63750692
NM_000518.5(HBB):c.316-202del rs1847537515
NM_000518.5(HBB):c.316-208C>G rs1847537539
NM_000518.5(HBB):c.316-272G>T rs773343845
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000518.5(HBB):c.316-98_316-86dup rs1847534434
NM_000518.5(HBB):c.319C>G (p.Leu107Val) rs63750596
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.339T>A (p.Cys113Ter) rs33930977
NM_000518.5(HBB):c.339_345dup (p.Ala116fs) rs281864527
NM_000518.5(HBB):c.340del (p.Val114fs)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.345_348dup (p.His117fs)
NM_000518.5(HBB):c.347C>A (p.Ala116Asp) rs35485099
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) rs63751306
NM_000518.5(HBB):c.354del (p.Phe119fs) rs281864528
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.373C>A (p.Pro125Thr) rs35461710
NM_000518.5(HBB):c.375dup (p.Pro126fs) rs281864544
NM_000518.5(HBB):c.378del (p.Val127fs) rs34363638
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.380_396del (p.Val127fs) rs750606223
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
NM_000518.5(HBB):c.385G>A (p.Ala129Thr)
NM_000518.5(HBB):c.387T>A (p.Ala129=) rs1248780802
NM_000518.5(HBB):c.394C>T (p.Gln132Ter) rs33910209
NM_000518.5(HBB):c.394_404del (p.Gln132fs)
NM_000518.5(HBB):c.395dup (p.Lys133fs) rs281864531
NM_000518.5(HBB):c.396_397del (p.Lys133fs) rs63750320
NM_000518.5(HBB):c.397A>T (p.Lys133Ter) rs33953406
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.404T>A (p.Val135Glu) rs33966761
NM_000518.5(HBB):c.417dup (p.Asn140Ter) rs1847523960
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) rs34980264
NM_000518.5(HBB):c.421_422delinsAT (p.Ala141Ile)
NM_000518.5(HBB):c.429_430del (p.His144fs) rs281864497
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) rs33949869
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) rs35291591
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]

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