ClinVar Miner

List of variants studied 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: 21
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HGVS dbSNP
NC_000016.10:g.47614206_47644831del
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.388_400del (p.Met130fs) rs1567705064
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000202.8(IDS):c.1006+1G>A
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
NM_000512.5(GALNS):c.121-7C>G
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
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_022172.2(PC):c.[2095G>A];[2095G>T]
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) rs1085307112

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