ClinVar Miner

List of variants studied for beta Thalassemia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.315+1G>T rs33945777

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