List of variants reported as likely pathogenic for beta Thalassemia by Counsyl

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.-137C>A	rs33941377	0.00004
NM_000518.5(HBB):c.-140C>T	rs34999973	0.00004
NM_000518.5(HBB):c.316-7C>A	rs34483965	0.00003
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	rs35424040	0.00002
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)	rs33974936	0.00001
NM_000518.5(HBB):c.*113A>G	rs33985472
NM_000518.5(HBB):c.147del (p.Ser50fs)	rs1554917947
NM_000518.5(HBB):c.203_204del (p.Val68fs)	rs34282684
NM_000518.5(HBB):c.230del (p.Ala77fs)	rs281864901
NM_000518.5(HBB):c.2T>C (p.Met1Thr)	rs33941849
NM_000518.5(HBB):c.315+1G>C	rs33945777
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.316-7C>G	rs34483965
NM_000518.5(HBB):c.328G>A (p.Val110Met)	rs33969677
NM_000518.5(HBB):c.64dup (p.Asp22fs)	rs1554918165
NM_000518.5(HBB):c.85dup (p.Leu29fs)	rs35532010
NM_000518.5(HBB):c.92+1G>T	rs33971440
NM_000518.5(HBB):c.92+5G>A	rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	rs33960103
NM_000518.5(HBB):c.93-15T>G	rs35456885

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