ClinVar Miner

List of variants studied for beta thalassemia by Counsyl

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
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
NC_000011.10:g.5225432G>T rs1277208445
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.*113A>G rs33985472
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.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.316-1G>A rs33952266
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.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.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885

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