ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001467.6(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.192C>G (p.Leu64=) rs762583668
NM_006516.3(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys) rs372540581
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu)

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