ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_000365.6(TPI1):c.690C>T (p.Phe230=) rs782267337 0.00004
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000365.6(TPI1):c.457+7C>G

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