ClinVar Miner

List of variants in gene HBA2, LOC106804612 studied for alpha thalassemia

Included ClinVar conditions (2):
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Total variants: 14
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NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.268_280del (p.His90fs)
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) rs33987053
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819
NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs) rs1057519637
NM_000517.6(HBA2):c.95+2_95+6del rs41474145

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