ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058

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