List of variants reported as pathogenic for beta-thalassemia and related diseases by Counsyl

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.*110T>C	rs33978907	0.00005
NC_000011.10:g.5227172G>A	rs63751208	0.00003
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
NM_000518.5(HBB):c.-138C>A	rs33944208
NM_000518.5(HBB):c.-50A>C	rs34305195
NM_000518.5(HBB):c.-78A>C	rs33931746
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)	rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs)	rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs)	rs34889882
NM_000518.5(HBB):c.251del (p.Gly84fs)	rs193922555
NM_000518.5(HBB):c.2T>G (p.Met1Arg)	rs33941849
NM_000518.5(HBB):c.316-1G>A	rs33952266
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.380T>G (p.Val127Gly)	rs33925391
NM_000518.5(HBB):c.46del (p.Trp16fs)	rs63749960
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)	rs33950507
NM_000518.5(HBB):c.92+2T>A	rs33956879
NM_000518.5(HBB):c.92+5G>T	rs33915217

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