ClinVar Miner

List of variants reported as pathogenic for alpha thalassemia by GeneReviews

Included ClinVar conditions (2):
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Total variants: 15
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HGVS dbSNP
NG_000006.1:g.32867_38062del5196
NG_000006.1:g.34164_37967del3804
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4(HBA2):c.95+2_95+6delTGAGG rs41474145
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs) rs1057519637
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_005332.2(HBZ):c.330_*22601del
Single allele

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