List of variants reported as pathogenic for beta thalassemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 20

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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.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NM_000518.5(HBB):c.-151C>T	rs63751208	0.00003
NM_000518.5(HBB):c.315+1G>A	rs33945777	0.00003
NM_000517.6(HBA2):c.*92A>G	rs63750067	0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs)	rs63749819	0.00002
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	rs41464951
NM_000517.6(HBA2):c.*94A>G	rs63751269
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.-138C>A	rs33944208
NM_000518.5(HBB):c.112del (p.Trp38fs)	rs63750532
NM_000518.5(HBB):c.135del (p.Phe46fs)	rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	rs63750783
NM_000518.5(HBB):c.93-22_95del	rs193922563

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