ClinVar Miner

List of variants in gene combination HBA2, LOC106804612 reported as benign for alpha thalassemia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.-43G>C rs71382271 1.00000
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
NM_000517.6(HBA2):c.-24C>G rs772829778 0.06872
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NC_000016.10:g.172832C>A rs1596569257
NM_000517.6(HBA2):c.245C>T (p.Ser82Phe) rs281864864
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000517.6(HBA2):c.95+11_95+34del rs1445188229

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