ClinVar Miner

Variants in gene combination HBA1, LOC106804613 with conflicting interpretations reported as "likely pathogenic and "other"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (other) minimum review status: Submission 2 (other) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948

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