ClinVar Miner

List of variants in gene combination NRL, PCK2 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_004563.4(PCK2):c.1468+2T>C rs148019349
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) rs753706965

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