ClinVar Miner

List of variants in gene combination HBB, LOC106099062, LOC107133510 reported as pathogenic for alpha thalassemia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220

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