List of variants in gene combination LOC126862264, MEFV reported as pathogenic by GeneDx

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00008
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00007
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)	rs387907570	0.00001
NM_000243.3(MEFV):c.1759+1G>A	rs876660996
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093
NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)	rs1555458284

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.