ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Pathology and Clinical Laboratory Medicine,King Fahad Medical City

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839

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