ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1259del (p.Pro420fs)
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000512.5(GALNS):c.[1097T>C;451C>A]

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