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

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Total variants: 11

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HGVS	dbSNP
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.4(GALT):c.253-2A>G	rs111033661
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715
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.607G>A (p.Glu203Lys)	rs111033736
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	rs111033744
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	rs111033800

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