ClinVar Miner

List of variants in gene HBB, LOC107133510, LOC110006319 studied for Beta thalassemia intermedia

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.*6C>G	rs34809925
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

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