ClinVar Miner

Variants in gene combination HBA2, LOC106804612 with conflicting interpretations reported as "other and "likely pathogenic"

Submission 1 (other) minimum review status: Submission 1 (other) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
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.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.91_93del (p.Glu31del) rs281864560

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