ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1609-8A>G
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) rs370142725
NM_130839.5(UBE3A):c.20+473G>A rs759994828
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2426_2429CAGA[1] (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs)
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2596del (p.Ala866fs) rs1064797196
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys) rs1417154910
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751
NM_130839.5(UBE3A):c.675C>A (p.Gly225=) rs1595812490
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) rs576963061

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