ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864

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