ClinVar Miner

List of variants studied for beta Thalassemia by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103 0.00002
NM_000518.5(HBB):c.117_118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115

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