ClinVar Miner

List of variants studied for beta-thalassemia HBB/LCRB by Myriad Women's Health, Inc.

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220

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