ClinVar Miner

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

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Total variants: 10
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NM_001354546.2(UBE3A):c.-27_-25del rs1555403188
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.1170G>C (p.Leu390Phe) rs1480295793
NM_130838.3(UBE3A):c.1211C>G (p.Pro404Arg) rs1566955976
NM_130838.3(UBE3A):c.1396A>G (p.Lys466Glu) rs1566954813
NM_130838.3(UBE3A):c.1885G>A (p.Gly629Arg) rs747626553
NM_130838.3(UBE3A):c.218A>C (p.Tyr73Ser) rs772952625
NM_130838.3(UBE3A):c.70G>A (p.Glu24Lys) rs1555403204

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