List of variants in gene EPG5 reported as not provided for Vici syndrome

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)

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr)	rs201213000	0.00019
NM_020964.3(EPG5):c.2350C>G (p.Gln784Glu)	rs764959017	0.00004
NM_020964.3(EPG5):c.1612C>T (p.Arg538Trp)	rs372785168	0.00002
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg)	rs777351158	0.00001
NM_020964.3(EPG5):c.3778G>A (p.Val1260Met)	rs2049965622

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.