ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698

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