ClinVar Miner

List of variants studied for beta thalassemia by Department of Medical Genetics, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.5224303_5227790del
NM_000518.5(HBB):c.373C>A (p.Pro125Thr) rs35461710
NM_000518.5(HBB):c.40G>A (p.Ala14Thr) rs766266418

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