ClinVar Miner

List of variants studied for disorder of glycolysis by Institute of Human Genetics, Heidelberg University

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) rs2128818859

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