ClinVar Miner

List of variants studied for Thalassemia

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.5225284C>T rs12574989 0.02483
NM_000517.4(HBA2):c.-157C>T
NM_000517.6(HBA2):c.*108G>A
NM_000518.4(HBB):c.-122T>C
NM_000519.4(HBD):c.332T>C (p.Leu111Pro)
NM_000558.5(HBA1):c.*79C>A

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