ClinVar Miner

List of variants studied for disorder of glycolysis by Centogene AG - the Rare Disease Company

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_001715.3(BLK):c.956G>T (p.Cys319Phe) rs1563123027
NM_053013.4(ENO3):c.1194dup (p.Cys399fs) rs757440599
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570

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