ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_130838.1(UBE3A):c.2310C>T (p.Ile770=) rs767254317
NM_130838.1(UBE3A):c.2359A>G (p.Thr787Ala) rs374519603
NM_130838.3(UBE3A):c.1209C>T (p.Asp403=) rs149506027
NM_130838.3(UBE3A):c.162G>A (p.Lys54=)
NM_130838.3(UBE3A):c.1707C>T (p.Tyr569=) rs139082033
NM_130838.3(UBE3A):c.2262C>T (p.Asp754=)
NM_130838.3(UBE3A):c.2370C>T (p.Asp790=)
NM_130838.3(UBE3A):c.2538C>T (p.Ala846=)
NM_130838.3(UBE3A):c.346T>C (p.Leu116=)

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