List of variants reported as pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773	0.00017
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	rs111033728	0.00006
NM_000155.4(GALT):c.253-2A>G	rs111033661	0.00005
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	rs111033814	0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	rs111033670	0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met)	rs111033686	0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	rs111033693	0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00003
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	rs111033744	0.00002
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	rs111033658	0.00001
NM_000155.4(GALT):c.329-2A>C	rs111033667	0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	rs111033682	0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln)	rs367543256	0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys)	rs111033695	0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	rs111033694	0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	rs111033737	0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His)	rs111033754	0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	rs111033790	0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	rs111033794	0.00001
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)	rs111033648
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)	rs111033674
NM_000155.4(GALT):c.377+53_1059+87del
NM_000155.4(GALT):c.452T>C (p.Val151Ala)	rs111033701
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	rs111033718
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)	rs1554709366
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)	rs111033743
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)	rs111033746
NM_000155.4(GALT):c.820+13A>G	rs111033768
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)	rs111033781
NM_000155.4(GALT):c.98G>A (p.Arg33His)	rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800
NM_000155.4(GALT):c.[413C>T;469G>A]

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