ClinVar Miner

List of variants reported as pathogenic for Dominant beta-thalassemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
NM_000518.5(HBB):c.3G>A (p.Met1Ile)	rs33930702

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