ClinVar Miner

List of variants studied for disorder of glycolysis by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser) rs782084984 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002

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