ClinVar Miner

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

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg) rs1800202 0.00329
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr) rs781949460 0.00200
NM_000365.6(TPI1):c.*219C>T rs376899563 0.00127
NM_000365.6(TPI1):c.463G>A (p.Val155Met) rs188138723 0.00118
NM_000365.6(TPI1):c.192G>A (p.Ala64=) rs149190846 0.00102
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000365.6(TPI1):c.543+6C>T rs369693539 0.00013
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_000365.6(TPI1):c.*253G>T rs782730165 0.00006
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694 0.00004
NM_000365.6(TPI1):c.*260G>A rs782764628 0.00003
NM_000365.6(TPI1):c.599C>T (p.Ala200Val) rs139532537 0.00003
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00003
NM_000365.6(TPI1):c.730A>G (p.Ile244Val) rs143000041 0.00003
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000365.6(TPI1):c.*239C>T rs886049811 0.00001
NM_000365.6(TPI1):c.*69C>T rs782061169 0.00001
NM_000365.6(TPI1):c.1A>G (p.Met1Val) rs201432576 0.00001
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350 0.00001
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser) rs781891192 0.00001
NM_000365.6(TPI1):c.*134C>A rs782308993
NM_000365.6(TPI1):c.*173G>A rs1191018741
NM_000365.6(TPI1):c.*520T>C rs1944574698
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.-29C>G rs181882616
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr) rs199881593
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
NM_000365.6(TPI1):c.558C>T (p.His186=) rs369241009
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
NM_000365.6(TPI1):c.694G>A (p.Val232Met) rs1555132614

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