ClinVar Miner

List of variants in gene combination DBNL, PGAM2 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter)

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