ClinVar Miner

List of variants studied for alpha Thalassemia by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) rs33987053 0.00001
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819

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