ClinVar Miner

List of variants in gene combination LOC126862264, MEFV reported as not provided for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000243.3(MEFV):c.1792+39G>A rs104895176 0.00115
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000243.3(MEFV):c.1760-28T>A rs104895169 0.00022
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000243.3(MEFV):c.1776C>T (p.Gly592=) rs104895161 0.00004
NM_000243.3(MEFV):c.1937C>T (p.Pro646Leu) rs104895107 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.1938G>A (p.Pro646=) rs104895160 0.00003
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) rs104895096 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) rs104895095 0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) rs104895191 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.1727-58T>C rs104895158
NM_000243.3(MEFV):c.1729A>T (p.Thr577Ser) rs104895193
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.1792+57C>T rs104895150
NM_000243.3(MEFV):c.1793-14A>G rs104895141
NM_000243.3(MEFV):c.1818C>T (p.Thr606=) rs104895213
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met) rs104895115
NM_000243.3(MEFV):c.1921A>T (p.Ile641Phe) rs104895147
NM_000243.3(MEFV):c.1946T>C (p.Leu649Pro) rs104895108
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr) rs142748016
NM_000243.3(MEFV):c.1956C>A (p.Arg652=) rs104895084
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.3(MEFV):c.1975G>T (p.Val659Phe) rs104895212
NM_000243.3(MEFV):c.1981G>A (p.Asp661Asn) rs104895120
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val) rs387907566
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.3(MEFV):c.2053G>A (p.Glu685Lys) rs587783378
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.2063A>G (p.Tyr688Cys) rs104895122
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2079G>C (p.Met693Ile) rs104895215
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.3(MEFV):c.2113C>T (p.Pro705Ser) rs104895145
NM_000243.3(MEFV):c.2126T>G (p.Leu709Arg) rs104895184
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) rs104895192

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.