ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.252+1G>A rs768154316
NM_000155.4(GALT):c.2T>G (p.Met1Arg) rs771702963
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.377+2dup rs763662108
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
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.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.821-7A>G rs767337193
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.900G>A (p.Trp300Ter) rs1034185619
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808

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