ClinVar Miner

List of variants reported as uncertain significance for alpha thalassemia by Natera, Inc.

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.396T>C (p.Ser132=) rs149264789 0.00085
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_000558.5(HBA1):c.301-9T>C rs368241947 0.00013
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NM_000517.6(HBA2):c.*47G>A rs4021971
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn) rs281860604
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys) rs281864819
NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys) rs1902038723
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly) rs281864823
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg) rs1318437795
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.257A>T (p.Asp86Val) rs1902160217

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