ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 7
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NM_130838.3(UBE3A):c.1407_1411ATTAT[1] (p.Leu470_Tyr471insTer) rs863225068
NM_130838.3(UBE3A):c.1697T>G (p.Met566Arg) rs587781244
NM_130838.3(UBE3A):c.2444C>G (p.Pro815Arg) rs863225069
NM_130838.3(UBE3A):c.2503_2508del (p.Leu835_Lys836del) rs863225070
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_130838.3(UBE3A):c.947T>C (p.Met316Thr) rs863225071

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