List of variants reported as pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Fulgent Genetics,Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	rs111033728
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800

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