List of variants in gene combination SNHG14, UBE3A reported as likely pathogenic by Invitae

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)	rs1064793307
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)	rs1064795012
NM_130839.5(UBE3A):c.2124+1G>T	rs2152693602
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup)	rs2152683847
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg)	rs2152848080
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del)	rs1555380809
NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp)	rs2152515149
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	rs587781239
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs)	rs2074288628
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr)	rs1566959617

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