ClinVar Miner

List of variants studied for disorder of glycolysis by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_001715.3(BLK):c.237G>A (p.Met79Ile)

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