ClinVar Miner

List of variants studied for Beta thalassemia intermedia

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NC_000011.10:g.5227158G>A rs33941377
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.93-3T>G rs34527846

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