ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Research and Development, ARUP Laboratories

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000155.4(GALT):c.959C>T (p.Ala320Val) rs367543272
NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser) rs1559600573
NM_001370658.1(BTD):c.368G>T (p.Cys123Phe) rs1336386457

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