List of variants reported as pathogenic for thalassemia by MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00006
NM_000518.5(HBB):c.-140C>T	rs34999973	0.00004
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	rs35256489	0.00002
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NC_000011.10:g.5227157G>C	rs33994806
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
NM_000518.5(HBB):c.126_129del (p.Phe42fs)	rs80356821
NM_000518.5(HBB):c.138del (p.Phe46fs)	rs35133315
NM_000518.5(HBB):c.161C>T (p.Ala54Val)
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606
NM_000518.5(HBB):c.46del (p.Trp16fs)	rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)	rs63750783
NM_000518.5(HBB):c.91A>C (p.Arg31=)	rs35684407
NM_000518.5(HBB):c.92+1G>T	rs33971440
NM_000518.5(HBB):c.93-1G>C	rs33943001
NM_000518.5(HBB):c.93-2A>C	rs63750513
Single allele

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