ClinVar Miner

List of variants in gene HBG1 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000559.3(HBG1):c.410C>G (p.Ala137Gly) rs56205611 0.00681
NM_000559.3(HBG1):c.364G>A (p.Glu122Lys) rs33963857 0.00006
NM_000559.3(HBG1):c.377A>C (p.Glu126Ala) rs770330940 0.00004
NM_000559.3(HBG1):c.*3T>C rs62755960
NM_000559.3(HBG1):c.*4C>T rs61893083
NM_000559.3(HBG1):c.*5A>C rs1065686
NM_000559.3(HBG1):c.*6C>T rs5009539

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