List of variants reported as pathogenic for Beta-thalassemia HBB/LCRB by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	rs11549407	0.00026
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.*110T>C	rs33978907	0.00005
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NC_000011.10:g.5227172G>A	rs63751208	0.00003
NM_000518.5(HBB):c.315+1G>A	rs33945777	0.00003
NM_000518.5(HBB):c.316-106C>G	rs34690599	0.00003
NM_000518.5(HBB):c.20del (p.Glu7fs)	rs63749819	0.00002
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
NM_000518.5(HBB):c.93-15T>G	rs35456885

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