ClinVar Miner

List of variants reported as pathogenic for Angelman syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (3):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter)	rs1555399937
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs)	rs1555379800
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)

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