List of variants studied for beta thalassemia by Genome-Nilou Lab

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.315+16G>C	rs10768683	0.82893
NM_000518.5(HBB):c.9T>C (p.His3=)	rs713040	0.82706
NM_000518.5(HBB):c.315+74T>G	rs7480526	0.44189
NM_000518.5(HBB):c.315+81C>T	rs7946748	0.10445
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.315+1G>A	rs33945777	0.00003
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	rs35424040	0.00002
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	rs33935383	0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter)	rs34716011	0.00001
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
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

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