ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance for History of neurodevelopmental disorder

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Total variants: 5
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HGVS dbSNP
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1078G>A (p.Val360Ile) rs751838524
NM_130838.3(UBE3A):c.1164A>C (p.Glu388Asp)
NM_130838.3(UBE3A):c.1211C>G (p.Pro404Arg) rs1566955976
NM_130838.3(UBE3A):c.1396A>G (p.Lys466Glu) rs1566954813

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