ClinVar Miner

List of variants reported as pathogenic for Beta-plus-thalassemia

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NC_000011.10:g.5227172G>C rs63751208
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.-82C>A rs34500389
NM_000518.4(HBB):c.182T>A (p.Val61Glu) rs33931779
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
NM_000518.5(HBB):c.*110T>A rs33978907
NM_000518.5(HBB):c.*110_*111insG
NM_000518.5(HBB):c.*110_*114del rs35949130
NM_000518.5(HBB):c.*112A>G rs63750954
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*116del
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-80T>C rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.28_29insTA (p.Ser10fs) rs1847587286
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
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.93-3T>G rs34527846

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