ClinVar Miner

List of variants reported as uncertain significance 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: 7
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HGVS dbSNP
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
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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