ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as likely benign by Ambry Genetics

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Total variants: 10
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HGVS dbSNP
NM_130839.5(UBE3A):c.1224A>C (p.Glu408Asp) rs769775137
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.222G>A (p.Lys74=) rs759225128
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) rs759095902
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) rs767254317
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) rs1566825584
NM_130839.5(UBE3A):c.2598C>T (p.Ala866=) rs748580495
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) rs1566962877

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