List of variants reported as uncertain significance for Vici syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)	rs144334723	0.00245
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)	rs191244915	0.00173
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)	rs201067154	0.00088
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val)	rs199602966	0.00053
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys)	rs761064074	0.00002
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser)	rs368321414	0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val)	rs772777352	0.00001
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu)	rs370270531	0.00001
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu)	rs2143723704
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe)	rs2050179430
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)	rs116076204

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.