ClinVar Miner

List of variants in gene TPI1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr) rs121964848
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845
NM_000365.6(TPI1):c.32dup (p.Asn12fs) rs587777441
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter) rs121964850
NM_000365.6(TPI1):c.511A>G (p.Ile171Val) rs121964849
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu) rs121964847
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser) rs587777440

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