ClinVar Miner

List of variants in gene TPI1 reported as pathogenic for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001159287.1(TPI1):c.143dup (p.Asn49fs) rs587777441
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
NM_001159287.1(TPI1):c.547G>T (p.Glu183Ter) rs121964850
NM_001159287.1(TPI1):c.622A>G (p.Ile208Val) rs121964849
NM_001159287.1(TPI1):c.680G>A (p.Arg227Gln) rs1565538350
NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu) rs121964847
NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser) rs587777440
NM_001258026.1(TPI1):c.-122G>A rs121964848

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