ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Elsea Laboratory,Baylor College of Medicine

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser)
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_001370658.1(BTD):c.-148C>T rs774964227
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_006755.2(TALDO1):c.884G>A (p.Arg295His)
NM_145262.4(GLYCTK):c.1460A>G (p.Asn487Ser) rs767047161
NM_145262.4(GLYCTK):c.304G>A (p.Gly102Ser)

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