ClinVar Miner

List of variants in gene EPB42 reported as pathogenic for anemia (disease)

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) rs115998465
NM_000119.2(EPB42):c.265delG (p.Val89Trpfs) rs266257354
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000119.2(EPB42):c.922+1G>A rs266257355
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000119.3(EPB42):c.523G>T (p.Asp175Tyr) rs143682977
NM_000119.3(EPB42):c.920C>T (p.Thr307Ile) rs515726211
NM_000119.3(EPB42):c.949C>T (p.Arg317Cys) rs515726212
NM_000119.3(EPB42):c.950del (p.Arg317fs) rs515726213

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