List of variants in gene MEFV reported as uncertain significance by Mendelics

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: 60

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)	rs61754767	0.00121
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	rs142352887	0.00034
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)	rs104895155	0.00032
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	rs104895151	0.00020
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	rs104895132	0.00006
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	rs144270019	0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)	rs104895144	0.00004
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)	rs190405488	0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)	rs104895124	0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)	rs104895110	0.00002
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)	rs104895104	0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	rs190705322	0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	rs104895163	0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	rs104895154	0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)	rs104895130	0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)	rs104895143	0.00001
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg)	rs765450054	0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	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.-12C>G	rs104895148
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro)	rs1218172738
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)	rs104895149
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	rs11466026
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)	rs104895173
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)	rs104895207
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	rs104895105
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	rs104895083
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	rs104895100
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp)	rs1596352746
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)	rs104895101
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)	rs104895168
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	rs104895152
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	rs104895171
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser)	rs774807554
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)	rs387907565
NM_000243.3(MEFV):c.2330dup (p.Gln778fs)	rs1596349724
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)	rs150819742
NM_000243.3(MEFV):c.25C>T (p.Leu9=)	rs104895146
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)	rs104895103
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])	rs104895121
NM_000243.3(MEFV):c.383A>T (p.Glu128Val)	rs201172310
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)	rs876660989
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)	rs104895190
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)	rs104895106
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)	rs104895125
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg)	rs104895134
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs)	rs104895180
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)	rs104895080
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)	rs104895127
NM_000243.3(MEFV):c.739A>G (p.Ile247Val)	rs1472692347
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)	rs104895111
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)	rs104895138
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)	rs104895123
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)	rs104895119
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)	rs104895132
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly)	rs104895167

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