ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Elsea Laboratory,Baylor College of Medicine

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.448G>C (p.Ala150Pro) rs1800546
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_001370658.1(BTD):c.-148C>T rs774964227

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