ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678

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