List of variants in gene combination LOC126862264, MEFV reported as uncertain significance for autosomal recessive disease

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: 103

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	rs11466045	0.01021
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	rs2234939	0.00864
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	rs11466047	0.00484
NM_000243.3(MEFV):c.1760-4G>A	rs79662406	0.00459
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)	rs104895192	0.00066
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	rs104895135	0.00029
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	rs104895210	0.00021
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)	rs139692347	0.00014
NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu)	rs1348832741	0.00009
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00007
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)	rs387907566	0.00007
NM_000243.3(MEFV):c.1759+7C>T	rs772667365	0.00006
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)	rs376579860	0.00006
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)	rs104895088	0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)	rs104895092	0.00006
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)	rs375716505	0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)	rs104895118	0.00004
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)	rs748891586	0.00004
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)	rs202174893	0.00004
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)	rs202228332	0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)	rs779572391	0.00003
NM_000243.3(MEFV):c.1886dup (p.Pro630fs)	rs876660997	0.00003
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)	rs104895096	0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)	rs200375017	0.00003
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)	rs758628487	0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	rs104895201	0.00003
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)	rs762605919	0.00002
NM_000243.3(MEFV):c.1759+12G>A	rs749730274	0.00002
NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr)	rs369069000	0.00002
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile)	rs1028273722	0.00002
NM_000243.3(MEFV):c.1808A>G (p.Asp603Gly)	rs138462251	0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	rs976279218	0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	rs104895202	0.00002
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)	rs746092199	0.00002
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)	rs952604863	0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)	rs104895165	0.00001
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)	rs780770024	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.1897C>A (p.Pro633Thr)	rs1958893897	0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)	rs776315170	0.00001
NM_000243.3(MEFV):c.1916G>A (p.Cys639Tyr)	rs1439074921	0.00001
NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu)	rs1432156641	0.00001
NM_000243.3(MEFV):c.2045dup (p.Ser683fs)	rs1242998026	0.00001
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu)	rs534682649	0.00001
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)	rs566082564	0.00001
NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu)	rs1487302096	0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)	rs749052818	0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	rs104895102	0.00001
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)	rs1033941048
NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly)
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)	rs1057516210
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser)	rs1057516210
NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile)	rs1057516210
NM_000243.3(MEFV):c.1736G>A (p.Arg579His)	rs574055513
NM_000243.3(MEFV):c.1759+11C>T	rs370349451
NM_000243.3(MEFV):c.1759+1G>T	rs876660996
NM_000243.3(MEFV):c.1760-1G>T
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)	rs141706767
NM_000243.3(MEFV):c.1793-2A>C	rs2141665238
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe)	rs1332372034
NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn)
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn)	rs766576175
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)	rs967990798
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.1933T>C (p.Ser645Pro)	rs2141665051
NM_000243.3(MEFV):c.1942T>C (p.Phe648Leu)	rs2141665045
NM_000243.3(MEFV):c.1945C>G (p.Leu649Val)	rs2141665039
NM_000243.3(MEFV):c.1955G>A (p.Arg652His)
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)	rs375716505
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)	rs104895086
NM_000243.3(MEFV):c.1969G>A (p.Val657Met)	rs1958892149
NM_000243.3(MEFV):c.1969G>C (p.Val657Leu)
NM_000243.3(MEFV):c.1991C>T (p.Ala664Val)	rs2141664988
NM_000243.3(MEFV):c.2020A>G (p.Ile674Val)	rs1958891209
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)	rs104895087
NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg)	rs771759703
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)	rs104895089
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)	rs104895090
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)	rs1355225244
NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp)	rs375378545
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)	rs387907570
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)	rs104895098
NM_000243.3(MEFV):c.2068G>A (p.Val690Met)
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)	rs1281153557
NM_000243.3(MEFV):c.2074_2076delinsGTG (p.Ile692Val)	rs1596350035
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.2080A>T (p.Met694Leu)	rs61752717
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys)	rs1596350022
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.2089A>C (p.Asn697His)
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)	rs104895166
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met)	rs1596349932
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)	rs104895192
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)	rs545517350
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)	rs545517350
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val)	rs1023300125
NM_000243.3(MEFV):c.2164G>C (p.Val722Leu)
NM_000243.3(MEFV):c.2164G>T (p.Val722Leu)	rs104895201

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