ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Department of Pathology and Laboratory Medicine,Sinai Health System

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668

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