ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP
Hb Little Rock
NM_000518.4(HBB):c.320T>A (p.Leu107Gln) rs33941844
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
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_000518.5(HBB):c.*110T>A rs33978907
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*110_*114del rs35949130
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*112A>G rs63750954
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>C rs33952266
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.328del (p.Val110fs) rs63751201
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056
NM_000518.5(HBB):c.343_344delinsG (p.Leu115fs) rs41443947
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.347C>A (p.Ala116Asp) rs35485099
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro) rs34502690
NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) rs63750860
NM_000518.5(HBB):c.404T>A (p.Val135Glu) rs33966761
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) rs34980264
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>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) rs35291591

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