ClinVar Miner

List of variants reported for beta Thalassemia by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NM_000518.4(HBB):c.388G>C (p.Ala130Pro)	rs35939430
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391

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