ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)

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