ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as other by OMIM

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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 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_000518.5(HBB):c.343C>A (p.Leu115Met) rs33917394 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.4(HBB):c.320T>C (p.Leu107Pro) rs33941844
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
NM_000518.4(HBB):c.334G>T (p.Val112Phe) rs33957964
NM_000518.4(HBB):c.338G>A (p.Cys113Tyr) rs33932908
NM_000518.4(HBB):c.338G>T (p.Cys113Phe) rs33932908
NM_000518.4(HBB):c.356T>A (p.Phe119Tyr) rs33928092
NM_000518.4(HBB):c.356T>G (p.Phe119Cys) rs33928092
NM_000518.4(HBB):c.359G>C (p.Gly120Ala) rs33947020
NM_000518.4(HBB):c.359G>T (p.Gly120Val) rs33947020
NM_000518.4(HBB):c.361A>C (p.Lys121Gln) rs33924134
NM_000518.4(HBB):c.361A>G (p.Lys121Glu) rs33924134
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.365A>C (p.Glu122Ala) rs33987957
NM_000518.4(HBB):c.365A>G (p.Glu122Gly) rs33987957
NM_000518.4(HBB):c.365A>T (p.Glu122Val) rs33987957
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.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.382C>A (p.Gln128Lys) rs33971634
NM_000518.4(HBB):c.382C>G (p.Gln128Glu) rs33971634
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) rs33910569
NM_000518.4(HBB):c.385G>C (p.Ala129Pro) rs34139813
NM_000518.4(HBB):c.386C>A (p.Ala129Asp) rs33957286
NM_000518.4(HBB):c.386C>T (p.Ala129Val) rs33957286
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.4(HBB):c.395A>C (p.Gln132Pro) rs33950778
NM_000518.4(HBB):c.395A>G (p.Gln132Arg) rs33950778
NM_000518.4(HBB):c.415G>A (p.Ala139Thr) rs33919821
NM_000518.4(HBB):c.415G>C (p.Ala139Pro) rs33919821
NM_000518.4(HBB):c.418A>G (p.Asn140Asp) rs33910475
NM_000518.4(HBB):c.418A>T (p.Asn140Tyr) rs33910475
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.430C>G (p.His144Asp) rs33929415
NM_000518.4(HBB):c.433A>G (p.Lys145Glu) rs33964352
NM_000518.4(HBB):c.439C>G (p.His147Asp) rs33961444
NM_000518.4(HBB):c.439C>T (p.His147Tyr) rs33961444
NM_000518.4(HBB):c.440A>C (p.His147Pro) rs33954264
NM_000518.4(HBB):c.440A>G (p.His147Arg) rs33954264
NM_000518.4(HBB):c.440A>T (p.His147Leu) rs33954264
NM_000518.4(HBB):c.[334G>C;359G>A]
NM_000518.4(HBB):c.[343C>A;359G>A]
NM_000518.4(HBB):c.[424C>G;433A>T]
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.322G>C (p.Gly108Arg) rs35017910
NM_000518.5(HBB):c.325A>G (p.Asn109Asp) rs33958637
NM_000518.5(HBB):c.327C>R (p.Asn109Lys) rs34933751
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.328G>C (p.Val110Leu) rs33969677
NM_000518.5(HBB):c.328del (p.Val110fs) rs63751201
NM_000518.5(HBB):c.335T>C (p.Val112Ala) rs35871407
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.346G>C (p.Ala116Pro) rs34945623
NM_000518.5(HBB):c.349C>T (p.His117Tyr) rs34049764
NM_000518.5(HBB):c.350A>C (p.His117Pro) rs33978082
NM_000518.5(HBB):c.350A>G (p.His117Arg) rs33978082
NM_000518.5(HBB):c.351T>R (p.His117Gln) rs35209776
NM_000518.5(HBB):c.362A>T (p.Lys121Ile) rs34303736
NM_000518.5(HBB):c.367T>C (p.Phe123Leu) rs33971848
NM_000518.5(HBB):c.373C>T (p.Pro125Ser) rs35461710
NM_000518.5(HBB):c.379G>C (p.Val127Leu) rs35658323
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.389C>A (p.Ala130Asp) rs111645889
NM_000518.5(HBB):c.391T>G (p.Tyr131Asp) rs35834416
NM_000518.5(HBB):c.392A>C (p.Tyr131Ser) rs33937535
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.396G>C (p.Gln132His) rs34188626
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.399A>Y (p.Lys133Asn) rs33946775
NM_000518.5(HBB):c.400G>C (p.Val134Leu) rs34095019
NM_000518.5(HBB):c.401T>C (p.Val134Ala) rs35825479
NM_000518.5(HBB):c.406G>C (p.Ala136Pro) rs35492035
NM_000518.5(HBB):c.407C>A (p.Ala136Asp) rs35669628
NM_000518.5(HBB):c.409G>C (p.Gly137Arg) rs33984863
NM_000518.5(HBB):c.415_417del (p.Ala139del) rs34359964
NM_000518.5(HBB):c.419A>C (p.Asn140Thr) rs34407387
NM_000518.5(HBB):c.420T>A (p.Asn140Lys) rs34240441
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) rs34980264
NM_000518.5(HBB):c.424_426del (p.Leu142del) rs33935780
NM_000518.5(HBB):c.425T>G (p.Leu142Arg) rs35854892
NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln) rs34383403
NM_000518.5(HBB):c.427G>C (p.Ala143Pro) rs33931806
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.431del (p.His144fs) rs63749858
NM_000518.5(HBB):c.434A>T (p.Lys145Met) rs33996892
NM_000518.5(HBB):c.434del (p.Lys145fs) rs63751425
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.436_437insCT (p.Tyr146fs) rs35660883
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.441C>A (p.His147Gln) rs33985739
NM_000518.5(HBB):c.441C>G (p.His147Gln) rs33985739

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