List of variants in gene combination SNHG14, UBE3A reported as uncertain significance 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)	rs371154816	0.00009
NM_130839.5(UBE3A):c.1728G>A (p.Val576=)	rs749731066	0.00004
NM_130839.5(UBE3A):c.*4A>G	rs755581358	0.00003
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=)	rs755119609	0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)	rs764101035	0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=)	rs1453409055	0.00003
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser)	rs916720140	0.00002
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)	rs371296838	0.00001
NM_130839.5(UBE3A):c.20+7T>C	rs771812460	0.00001
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=)	rs587782926
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu)	rs398124439
NM_130839.5(UBE3A):c.2134A>C (p.Asn712His)	rs1555389918
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp)	rs587784528
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala)	rs1211073576
NM_130839.5(UBE3A):c.63-14_63-7del	rs794727306
NM_130839.5(UBE3A):c.948_950del (p.Ala317del)	rs398124441

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