ClinVar Miner

List of variants in gene BPGM reported as pathogenic for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001724.5(BPGM):c.185G>A (p.Arg62Gln)
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) rs121964925
NM_001724.5(BPGM):c.269G>A (p.Arg90His)
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092

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