ClinVar Miner

List of variants in gene TPI1 studied for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
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Total variants: 29
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HGVS dbSNP
NM_001159287.1(TPI1):c.*178G>A rs144171030
NM_001159287.1(TPI1):c.*239C>T rs886049811
NM_001159287.1(TPI1):c.*260G>A rs782764628
NM_001159287.1(TPI1):c.*341C>T rs1804544
NM_001159287.1(TPI1):c.*420T>C rs58194764
NM_001159287.1(TPI1):c.*541dup rs201871949
NM_001159287.1(TPI1):c.*542_*544del rs782559646
NM_001159287.1(TPI1):c.*69C>T rs782061169
NM_001159287.1(TPI1):c.101G>A (p.Gly34Asp) rs199634350
NM_001159287.1(TPI1):c.143dup (p.Asn49fs) rs587777441
NM_001159287.1(TPI1):c.350+8C>A rs782359362
NM_001159287.1(TPI1):c.372C>T (p.Cys124=) rs370863694
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
NM_001159287.1(TPI1):c.432T>C (p.Asp144=) rs141972556
NM_001159287.1(TPI1):c.547G>T (p.Glu183Ter) rs121964850
NM_001159287.1(TPI1):c.622A>G (p.Ile208Val) rs121964849
NM_001159287.1(TPI1):c.654+5C>G rs782153322
NM_001159287.1(TPI1):c.654+6C>T rs369693539
NM_001159287.1(TPI1):c.655-10C>G rs115061797
NM_001159287.1(TPI1):c.655-14G>A rs72661109
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201
NM_001159287.1(TPI1):c.680G>A (p.Arg227Gln) rs1565538350
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200
NM_001159287.1(TPI1):c.728G>A (p.Arg243His) rs782417309
NM_001159287.1(TPI1):c.742+13G>A rs60115912
NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu) rs121964847
NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser) rs587777440
NM_001159287.1(TPI1):c.83C>T (p.Thr28Ile) rs181882616
NM_001258026.1(TPI1):c.-122G>A rs121964848

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