ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) rs1085307112

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