List of variants in gene combination SNHG14, UBE3A reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter)	rs886043612
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs)	rs398124438
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs)	rs794727738
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs)	rs398124440
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs)	rs786200996

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