ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic for Beta-plus-thalassemia

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Total variants: 13
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HGVS dbSNP
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
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.316-3C>A rs33913413
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro) rs34502690

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