ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
NM_130838.3(UBE3A):c.1147G>T (p.Glu383Ter) rs1555400239
NM_130838.3(UBE3A):c.1174_1180GAAGAAA[1] (p.Arg394fs) rs886041283
NM_130838.3(UBE3A):c.1184_1193dup (p.Gly399fs) rs886041603
NM_130838.3(UBE3A):c.1481dup (p.Gln495fs) rs1064796224
NM_130838.3(UBE3A):c.1516C>T (p.Arg506Cys) rs1064793307
NM_130838.3(UBE3A):c.1548+1G>A rs1555399890
NM_130838.3(UBE3A):c.1648_1650del (p.Glu550del) rs1064796545
NM_130838.3(UBE3A):c.1694-2A>C rs587780579
NM_130838.3(UBE3A):c.1891_1892TC[1] (p.His632fs) rs886039516
NM_130838.3(UBE3A):c.2371_2372AG[1] (p.Arg791fs) rs886039476
NM_130838.3(UBE3A):c.2409dup (p.Ile804fs) rs886041289
NM_130838.3(UBE3A):c.2507_2510del (p.Lys836fs) rs587784527
NM_130838.3(UBE3A):c.2507_2510dup (p.Leu839fs) rs587784527
NM_130838.3(UBE3A):c.2509_2510GA[1] (p.Glu837fs) rs886041252
NM_130838.3(UBE3A):c.317_321del (p.Thr106fs) rs587784529
NM_130838.3(UBE3A):c.457del (p.Glu153fs) rs1131691801
NM_130838.3(UBE3A):c.566C>G (p.Ser189Ter) rs1566961418
NM_130838.3(UBE3A):c.660C>A (p.Tyr220Ter) rs755078197
NM_130838.3(UBE3A):c.767del (p.Arg256fs) rs886039448
NM_130838.3(UBE3A):c.7C>T (p.Arg3Ter) rs1490279918
NM_130838.3(UBE3A):c.91_92TG[3] (p.Ala32fs) rs886041451

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