ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as pathogenic by Ambry Genetics

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Total variants: 9
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NM_000462.5(UBE3A):c.2470_2479del (p.Leu823_Lys824insTer) rs1566825063
NM_130838.3(UBE3A):c.1201C>T (p.Arg401Ter) rs587781196
NM_130838.3(UBE3A):c.1254_1342del (p.Lys418fs) rs1555400067
NM_130838.3(UBE3A):c.1722del (p.Lys574fs) rs1555391286
NM_130838.3(UBE3A):c.1805A>G (p.Asn602Ser) rs587784521
NM_130838.3(UBE3A):c.1811_1812del (p.Cys604fs) rs864309508
NM_130838.3(UBE3A):c.2343_2345CTT[1] (p.Phe782del) rs1555380820
NM_130838.3(UBE3A):c.2507_2510del (p.Lys836fs) rs587784527
NM_130838.3(UBE3A):c.972_978del (p.Thr325fs) rs587781192

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