ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 5
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NM_000462.5(UBE3A):c.498C>G (p.Ser166Arg) rs1566962361
NM_130838.3(UBE3A):c.1363A>G (p.Met455Val) rs864309507
NM_130838.3(UBE3A):c.1811_1812del (p.Cys604fs) rs864309508
NM_130838.3(UBE3A):c.2507_2510del (p.Lys836fs) rs587784527
NM_130838.3(UBE3A):c.59G>T (p.Gly20Val) rs864309506

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