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

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

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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