ClinVar Miner

List of variants reported as pathogenic for beta-thalassemia HBB/LCRB by Centogene AG - the Rare Disease Company

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066

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