ClinVar Miner

List of variants in gene MEFV reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NM_000243.2(MEFV):c.*1029G>C rs142648477
NM_000243.2(MEFV):c.*1080A>G rs568129540
NM_000243.2(MEFV):c.*169C>T rs558576646
NM_000243.2(MEFV):c.*19C>T rs761376734
NM_000243.2(MEFV):c.*280G>C rs562541179
NM_000243.2(MEFV):c.*292C>G rs560496227
NM_000243.2(MEFV):c.*403A>C rs766365739
NM_000243.2(MEFV):c.*467_*469del rs746257932
NM_000243.2(MEFV):c.*543C>T rs886051970
NM_000243.2(MEFV):c.*639G>A rs181380218
NM_000243.2(MEFV):c.*679C>G rs886051969
NM_000243.2(MEFV):c.*701G>A rs368896227
NM_000243.2(MEFV):c.*724G>A rs886051968
NM_000243.2(MEFV):c.*74C>T rs11466050
NM_000243.2(MEFV):c.*761del rs886051967
NM_000243.2(MEFV):c.*779del rs60407399
NM_000243.2(MEFV):c.*818A>C rs886051965
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.-15C>G rs11466015
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
NM_000243.2(MEFV):c.1038C>G (p.Gly346=) rs141090517
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1060C>T (p.Arg354Trp) rs104895116
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1173T>C (p.Asp391=) rs146077729
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.1245C>T (p.Val415=) rs104895195
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1341G>C (p.Lys447Asn) rs756322372
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1406T>C (p.Val469Ala) rs778686119
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718
NM_000243.2(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.2(MEFV):c.1527C>T (p.Leu509=) rs571832030
NM_000243.2(MEFV):c.1736G>A (p.Arg579His) rs574055513
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.2049G>A (p.Ser683=) rs104895092
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2164G>A (p.Val722Met) rs104895201
NM_000243.2(MEFV):c.2338C>A (p.Pro780Thr) rs104895154
NM_000243.2(MEFV):c.233A>G (p.Asn78Ser) rs145015653
NM_000243.2(MEFV):c.277G>C (p.Glu93Gln) rs138498376
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.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.344C>G (p.Pro115Arg) rs201766654
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.651G>C (p.Ala217=) rs886051971
NM_000243.2(MEFV):c.66G>A (p.Glu22=) rs569040282
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.775A>G (p.Ile259Val) rs104895144
NM_000243.2(MEFV):c.801A>G (p.Thr267=) rs141455838
NM_000243.2(MEFV):c.941G>A (p.Arg314His) rs104895204
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.*1002G>C
NM_000243.3(MEFV):c.*1008A>G
NM_000243.3(MEFV):c.*1096A>T
NM_000243.3(MEFV):c.*190G>C
NM_000243.3(MEFV):c.*394C>T
NM_000243.3(MEFV):c.*579C>A
NM_000243.3(MEFV):c.*690G>T
NM_000243.3(MEFV):c.*695C>G
NM_000243.3(MEFV):c.*721T>A
NM_000243.3(MEFV):c.*761C>G
NM_000243.3(MEFV):c.*797T>C
NM_000243.3(MEFV):c.*845C>T
NM_000243.3(MEFV):c.*862A>C
NM_000243.3(MEFV):c.*959T>C
NM_000243.3(MEFV):c.*981A>G
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln)
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val)
NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr)
NM_000243.3(MEFV):c.377G>T (p.Gly126Val)
NM_000243.3(MEFV):c.390C>G (p.Asn130Lys)
NM_000243.3(MEFV):c.398G>T (p.Arg133Leu)
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)

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