ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) rs1598578030
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) rs1598585402
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994
NM_000152.5(GAA):c.858+24G>C rs770608668
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) rs763216519

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