List of variants in gene MEFV reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 74

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)	rs139313647	0.00047
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)	rs752973530	0.00018
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)	rs200557537	0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)	rs112739451	0.00014
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.959G>C (p.Gly320Ala)	rs374412819	0.00009
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)	rs141288548	0.00006
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)	rs140462252	0.00006
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)	rs747515115	0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	rs104895132	0.00006
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)	rs778686119	0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)	rs756975501	0.00005
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)	rs104895116	0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)	rs749651486	0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	rs144270019	0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)	rs768473920	0.00004
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)	rs151306047	0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)	rs104895144	0.00004
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)	rs146862274	0.00004
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)	rs377754606	0.00003
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)	rs779558690	0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	rs104895194	0.00003
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)	rs797001768	0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)	rs759997694	0.00003
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)	rs763015849	0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)	rs190405488	0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)	rs1057519328	0.00002
NM_000243.3(MEFV):c.199G>A (p.Val67Met)	rs1422054832	0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His)	rs201075710	0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)	rs104895124	0.00002
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)	rs104895214	0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)	rs758868622	0.00001
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)	rs144716190	0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)	rs104895101	0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	rs190705322	0.00001
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)	rs150730718	0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	rs104895163	0.00001
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)	rs756029520	0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)	rs1306636942	0.00001
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)	rs777199024	0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His)	rs104895126	0.00001
NM_000243.3(MEFV):c.566G>T (p.Gly189Val)	rs923516953	0.00001
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)	rs754679070	0.00001
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)	rs753623518	0.00001
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)	rs775020273	0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)	rs104895119	0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)	rs387907567	0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)	rs757216434	0.00001
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)	rs11466023
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)	rs11466024
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	rs104895100
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)	rs104895101
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)	rs922232615
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)	rs1959115695
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	rs104895152
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	rs104895171
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)	rs757708595
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)	rs150819742
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)	rs376971129
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)	rs772332566
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)	rs104895103
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)	rs766323718
NM_000243.3(MEFV):c.410del (p.Gly137fs)	rs767006697
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)	rs876660991
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)	rs766670643
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)	rs1555459404
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)	rs202196752
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)	rs777009752
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup)	rs761993422
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)	rs104895179
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)	rs104895123
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)	rs104895119

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