ClinVar Miner

List of variants reported as pathogenic for alpha Thalassemia by Natera, Inc.

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000517.6(HBA2):c.60del (p.His21fs) rs886041399 0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159 0.00006
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) rs41412046
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.1del (p.Met1fs) rs587776828
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693

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