ClinVar Miner

List of variants in gene combination HBA2, LOC106804612 reported as uncertain significance for anemia

Included ClinVar conditions (281):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000517.4(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.199C>A (p.Leu67Met) rs1280121011
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln) rs41323248
NM_000517.6(HBA2):c.200T>G (p.Leu67Arg) rs41323248
NM_000517.6(HBA2):c.203C>T (p.Thr68Ile) rs2142017990
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile) rs281864488

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