ClinVar Miner

List of variants in gene TPI1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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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.*178G>A rs144171030
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.*341C>T rs1804544
NM_000365.6(TPI1):c.*388C>T
NM_000365.6(TPI1):c.*39G>A
NM_000365.6(TPI1):c.*420T>C rs58194764
NM_000365.6(TPI1):c.*519T>C
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.*549A>G
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.-31C>T
NM_000365.6(TPI1):c.116-13A>G
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr) rs121964848
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.315G>C (p.Glu105Asp) rs121964845
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556
NM_000365.6(TPI1):c.32dup (p.Asn12fs) rs587777441
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter) rs121964850
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849
NM_000365.6(TPI1):c.511A>G (p.Ile171Val) rs121964849
NM_000365.6(TPI1):c.543+5C>G rs782153322
NM_000365.6(TPI1):c.543+6C>T rs369693539
NM_000365.6(TPI1):c.544-10C>G rs115061797
NM_000365.6(TPI1):c.544-14G>A rs72661109
NM_000365.6(TPI1):c.558C>T (p.His186=)
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309
NM_000365.6(TPI1):c.631+13G>A rs60115912
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu) rs121964847
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser) rs587777440
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
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200

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