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 (302):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987 0.00023
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys) rs372540581 0.00014
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213 0.00009
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu) rs111283441 0.00004
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) rs369399624
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala) rs1554455000

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