ClinVar Miner

List of variants in gene GLDC reported as pathogenic for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539

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