ClinVar Miner

List of variants reported as likely pathogenic for alpha thalassemia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.268_280del (p.His90fs) rs1596570041
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.46G>T (p.Gly16Cys) rs281864811
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
NM_000558.5(HBA1):c.2del (p.Met1fs) rs1298047912
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507

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