List of variants reported as pathogenic for beta-thalassemia HBB/LCRB by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000518.5(HBB):c.316-197C>T	rs34451549	0.00005
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	rs33986703	0.00002
NM_000518.5(HBB):c.-78A>G	rs33931746	0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs)	rs33969853	0.00001
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	rs33922842
NM_000518.5(HBB):c.93-22_95del	rs193922563

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