ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 5
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NM_000462.5(UBE3A):c.2428A>G (p.Thr810Ala) rs374519603
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys)
NM_130839.5(UBE3A):c.675C>A (p.Gly225=)

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