ClinVar Miner

List of variants in gene HBB, LOC107133510, LOC110006319 studied for beta-thalassemia HBB/LCRB

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA rs1847513733
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427

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