List of variants in gene MEFV reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	rs11466023	0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	rs11466024	0.01456
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	rs104895151	0.00020
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)	rs764274816	0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)	rs756322372	0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)	rs104895198	0.00010
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)	rs104895185	0.00007
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)	rs756975501	0.00005
NM_000243.3(MEFV):c.1130G>A (p.Arg377His)	rs144998416	0.00004
NM_000243.3(MEFV):c.128G>A (p.Ser43Asn)	rs769518848	0.00002
NM_000243.3(MEFV):c.199G>A (p.Val67Met)	rs1422054832	0.00002
NM_000243.3(MEFV):c.224G>A (p.Arg75Gln)	rs376891162	0.00002
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	0.00001
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)	rs753623518	0.00001
NM_000243.3(MEFV):c.841C>T (p.Pro281Ser)	rs1404384520	0.00001
GRCh37/hg19 16p13.3(chr16:3293141-3306587)x3
NM_000243.3(MEFV):c.1035A>T (p.Ser345=)	rs1064797207
NM_000243.3(MEFV):c.1243G>C (p.Val415Leu)	rs938767620
NM_000243.3(MEFV):c.1340A>T (p.Lys447Met)
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)	rs1958986915
NM_000243.3(MEFV):c.1420_1422delinsAAA (p.Glu474Lys)	rs2141669181
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	rs104895105
NM_000243.3(MEFV):c.253_254delinsAT (p.Glu85Met)	rs2141679351
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)	rs104895103
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr)	rs483353017
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)	rs104895125
NM_000243.3(MEFV):c.578C>T (p.Ala193Val)	rs778534523
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)	rs104895138
NM_000243.3(MEFV):c.992C>T (p.Ser331Phe)	rs1959002659

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.