ClinVar Miner

List of variants reported as pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Mendelics

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Total variants: 3

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HGVS	dbSNP
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter)	rs111033652
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	rs111033800

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