ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3

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HGVS	dbSNP
NM_000155.4(GALT):c.290A>T (p.Asn97Ile)	rs111033669
NM_000155.4(GALT):c.394C>T (p.His132Tyr)	rs111033688
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)	rs1587239309

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