List of variants in gene EPG5 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)	rs144860976	0.00405
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)	rs61978576	0.00295
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)	rs148641800	0.00232
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)	rs180913079	0.00113
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)	rs201067154	0.00088
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile)	rs200530606	0.00067
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=)	rs200489622	0.00062
NM_020964.3(EPG5):c.2690A>G (p.Glu897Gly)	rs2145782456
NM_020964.3(EPG5):c.6622-23dup	rs11333207
NM_020964.3(EPG5):c.6622-7del	rs11333207

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.