ClinVar Miner

List of variants studied for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Mendelics

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Total variants: 12
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HGVS dbSNP
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800

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