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

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Total variants: 5

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HGVS	dbSNP
NM_000155.4(GALT):c.329-2A>C	rs111033667
NM_000155.4(GALT):c.425T>A (p.Met142Lys)	rs111033695
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)	rs1554709366
NM_000155.4(GALT):c.747G>A (p.Trp249Ter)	rs111033758
NM_000155.4(GALT):c.948G>A (p.Trp316Ter)	rs111033791

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