ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as benign by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP
NM_000462.5(UBE3A):c.2627A>G (p.Ter876=) rs76794400
NM_130838.3(UBE3A):c.116G>A (p.Arg39His) rs587784511
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1713A>G (p.Glu571=) rs34670662
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506

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