ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) rs1596047883

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