ClinVar Miner

List of variants in gene combination HBB, LOC107133510, LOC110006319 reported as pathogenic for beta^0^ Thalassemia

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Total variants: 9
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NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>C rs33952266
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.328del (p.Val110fs) rs63751201
NM_000518.5(HBB):c.343_344delinsG (p.Leu115fs) rs41443947

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