List of variants in gene combination SNHG14, UBE3A studied for See cases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser)	rs147446244	0.00004
GRCh38/hg38 15q11.2(chr15:25334870-25351819)x3
GRCh38/hg38 15q11.2(chr15:25337273-25342717)x3
GRCh38/hg38 15q11.2(chr15:25337273-25381835)x1
GRCh38/hg38 15q11.2(chr15:25365789-25375524)x3
NM_130839.5(UBE3A):c.1801T>A (p.Ser601Thr)	rs2152701031
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe)	rs587783097
NM_130839.5(UBE3A):c.732_735del (p.Ser245fs)	rs2152822637

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