ClinVar Miner

List of variants studied for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 17
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HGVS dbSNP
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
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.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800

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