ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000365.6(TPI1):c.*134C>A
NM_000365.6(TPI1):c.*173G>A
NM_000365.6(TPI1):c.*219C>T
NM_000365.6(TPI1):c.*239C>T rs886049811
NM_000365.6(TPI1):c.*253G>T
NM_000365.6(TPI1):c.*260G>A rs782764628
NM_000365.6(TPI1):c.*520T>C
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.*69C>T rs782061169
NM_000365.6(TPI1):c.-11G>A rs199634350
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849
NM_000365.6(TPI1):c.543+5C>G rs782153322
NM_000365.6(TPI1):c.543+6C>T rs369693539
NM_000365.6(TPI1):c.558C>T (p.His186=)
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr)
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg) rs1800202

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