ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Ege University Pediatric Genetics,Ege University

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_000642.3(AGL):c.1083-2A>G rs1570433472
NM_000642.3(AGL):c.2950-2A>G rs770438130
NM_000642.3(AGL):c.3837-1G>A rs1570508240

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