ClinVar Miner

List of variants in gene HBB reported as pathogenic for beta-thalassemia HBB/LCRB

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000011.10:g.5216940_5229551del
NC_000011.10:g.5218346_5226066del
NC_000011.10:g.5284251_5289110del
NM_000518.4:c.91+6T>C
NM_000518.4:c.[316-12T>C;316-7C>A]
NM_000518.5:c.94_95insGGC
c.17delA

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