ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val) rs121909734
NM_006516.3(SLC2A1):c.1033_1042del (p.Ala345fs) rs1553155973
NM_006516.3(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.3(SLC2A1):c.844_855del (p.Gln282_Ser285del) rs1553156047

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