ClinVar Miner

List of variants in gene MEFV reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
Download table as spreadsheet
HGVS dbSNP
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.-614C>G rs11466012
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1048C>T (p.Pro350Ser)
NM_000243.2(MEFV):c.1061G>A (p.Arg354Gln) rs763015849
NM_000243.2(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1117C>T (p.Pro373Ser) rs1567234649
NM_000243.2(MEFV):c.1129C>T (p.Arg377Cys) rs896909303
NM_000243.2(MEFV):c.1151T>C (p.Leu384Pro)
NM_000243.2(MEFV):c.1222C>T (p.Arg408Trp) rs758868622
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1297C>G (p.Leu433Val)
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1337A>C (p.Glu446Ala) rs749651486
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1455G>A (p.Glu485=)
NM_000243.2(MEFV):c.1459G>C (p.Val487Leu) rs104895100
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1503C>T (p.Arg501=) rs76464258
NM_000243.2(MEFV):c.1504G>A (p.Val502Ile) rs140462252
NM_000243.2(MEFV):c.1508C>G (p.Ser503Cys) rs190705322
NM_000243.2(MEFV):c.1532C>T (p.Ala511Val)
NM_000243.2(MEFV):c.1587+5G>A rs1555458661
NM_000243.2(MEFV):c.1587+5G>T rs1555458661
NM_000243.2(MEFV):c.1643C>A (p.Thr548Asn) rs550970304
NM_000243.2(MEFV):c.1735C>T (p.Arg579Cys)
NM_000243.2(MEFV):c.1744A>C (p.Met582Leu) rs104895165
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1764A>G (p.Pro588=) rs1231122
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1780C>T (p.Gln594Ter) rs780770024
NM_000243.2(MEFV):c.1795A>G (p.Asn599Asp) rs104895210
NM_000243.2(MEFV):c.1886dup (p.Pro630fs) rs876660997
NM_000243.2(MEFV):c.1898C>T (p.Pro633Leu) rs976279218
NM_000243.2(MEFV):c.1899G>T (p.Pro633=) rs776315170
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.198C>T (p.Ala66=) rs149380763
NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.2(MEFV):c.2042_2043CT[1] (p.Leu682fs) rs1355225244
NM_000243.2(MEFV):c.2074_2076delinsGTG (p.Ile692Val)
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2123G>A (p.Arg708His)
NM_000243.2(MEFV):c.2146A>G (p.Lys716Glu) rs746092199
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2163C>T (p.Phe721=) rs11466047
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.2327G>C (p.Gly776Ala)
NM_000243.2(MEFV):c.2330_2331del (p.Gly777fs) rs753946287
NM_000243.2(MEFV):c.277+1G>T rs1328913013
NM_000243.2(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) rs747515115
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.311C>G (p.Ser104Cys)
NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.340A>G (p.Lys114Glu) rs1252844849
NM_000243.2(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.2(MEFV):c.378G>A (p.Gly126=) rs777867857
NM_000243.2(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.460T>C (p.Ser154Pro) rs756975501
NM_000243.2(MEFV):c.462G>A (p.Ser154=) rs1555459437
NM_000243.2(MEFV):c.490A>T (p.Lys164Ter)
NM_000243.2(MEFV):c.536G>A (p.Ser179Asn)
NM_000243.2(MEFV):c.539C>T (p.Pro180Leu) rs104895134
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.553G>A (p.Gly185Arg) rs1266566289
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.575G>C (p.Arg192Thr)
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>C (p.Gly196Arg)
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.630G>T (p.Ala210=) rs770830323
NM_000243.2(MEFV):c.65del (p.Glu22fs)
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.682C>T (p.Pro228Ser)
NM_000243.2(MEFV):c.766A>G (p.Asn256Asp) rs1567237118
NM_000243.2(MEFV):c.775A>G (p.Ile259Val) rs104895144
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.2(MEFV):c.836C>T (p.Ala279Val)
NM_000243.2(MEFV):c.884dup (p.Gly296fs)
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.963C>A (p.Asp321Glu)
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112

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.