ClinVar Miner

List of variants in gene PLOD1 reported as pathogenic for Congenital omphalocele; High palate; Depressed nasal bridge; Generalized hypotonia; Joint hypermobility; Thoracolumbar scoliosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) rs1057518879

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