List of variants in gene EVC reported as benign by Eurofins NTD LLC (GA)

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)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=)	rs6446393	0.95639
NM_153717.3(EVC):c.772T>C (p.Tyr258His)	rs6414624	0.72068
NM_153717.3(EVC):c.939+10A>G	rs2286342	0.67122
NM_153717.3(EVC):c.1099-19T>C	rs899691	0.37351
NM_153717.3(EVC):c.939+4C>T	rs2286343	0.33466
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626	0.07232
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)	rs2279252	0.01416
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)	rs60582583	0.00733
NM_153717.3(EVC):c.780G>A (p.Lys260=)	rs41269555	0.00676
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)	rs41269547	0.00561
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)	rs111293777	0.00354
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)	rs142535134	0.00309
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)	rs150284356	0.00011
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)	rs2302075

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.