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

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: 73

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)	rs75977701	0.00316
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)	rs11466016	0.00250
NM_000243.3(MEFV):c.986G>A (p.Arg329His)	rs104895112	0.00133
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)	rs61754767	0.00121
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)	rs145637617	0.00076
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	rs142352887	0.00034
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	rs104895151	0.00020
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)	rs752973530	0.00018
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)	rs104895157	0.00016
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.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)	rs374412819	0.00009
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)	rs747515115	0.00006
NM_000243.3(MEFV):c.796A>G (p.Lys266Glu)	rs755178462	0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	rs104895132	0.00006
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)	rs756975501	0.00005
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)	rs749651486	0.00004
NM_000243.3(MEFV):c.487G>C (p.Glu163Gln)	rs759918824	0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00004
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)	rs377754606	0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	rs104895194	0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)	rs759997694	0.00003
NM_000243.3(MEFV):c.239G>A (p.Arg80His)	rs201075710	0.00002
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)	rs773320625	0.00002
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)	rs774397209	0.00001
NM_000243.3(MEFV):c.1211A>G (p.His404Arg)	rs755659290	0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	rs190705322	0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)	rs104895199	0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)	rs550970304	0.00001
NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu)	rs876661026	0.00001
NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly)	rs748264438	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.233A>G (p.Asn78Ser)	rs145015653	0.00001
NM_000243.3(MEFV):c.307G>C (p.Asp103His)	rs757543348	0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)	rs104895211	0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His)	rs104895126	0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	rs104895080	0.00001
NM_000243.3(MEFV):c.1006G>A (p.Glu336Lys)
NM_000243.3(MEFV):c.1174G>A (p.Glu392Lys)	rs1390626254
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)	rs11466024
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	rs11466026
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	rs104895105
NM_000243.3(MEFV):c.1440dup (p.Val481fs)	rs1085307581
NM_000243.3(MEFV):c.18T>A (p.Ser6Arg)	rs772221366
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.2236T>C (p.Cys746Arg)	rs1407457811
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	rs104895171
NM_000243.3(MEFV):c.233A>T (p.Asn78Ile)	rs145015653
NM_000243.3(MEFV):c.248C>T (p.Ala83Val)
NM_000243.3(MEFV):c.282T>G (p.Tyr94Ter)	rs762535762
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)	rs104895103
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)	rs147557169
NM_000243.3(MEFV):c.365A>G (p.Asp122Gly)	rs876660988
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])	rs104895121
NM_000243.3(MEFV):c.401C>A (p.Pro134Gln)	rs377250147
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)	rs876660989
NM_000243.3(MEFV):c.427_442dup (p.Glu148fs)	rs876660992
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)	rs876660990
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)	rs876660991
NM_000243.3(MEFV):c.444G>C (p.Glu148Asp)	rs2141677476
NM_000243.3(MEFV):c.505del (p.Leu169fs)
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)	rs876660993
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.565_570dup (p.Gly189_Pro190dup)	rs761993422
NM_000243.3(MEFV):c.577G>A (p.Ala193Thr)	rs876660994
NM_000243.3(MEFV):c.818C>T (p.Ser273Leu)	rs483353019
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)	rs104895119
NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His)	rs1085307824
NM_000243.3(MEFV):c.98T>G (p.Val33Gly)

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