ClinVar Miner

List of variants in gene MEFV reported as benign for Familial Mediterranean fever

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000243.3(MEFV):c.1356+44A>G rs224212 0.59650
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000243.3(MEFV):c.*474C>G rs11466051 0.59239
NM_000243.3(MEFV):c.*1056G>T rs450021 0.59227
NM_000243.3(MEFV):c.*475A>G rs11466052 0.59188
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000243.3(MEFV):c.1610+96C>T rs224204 0.46165
NM_000243.3(MEFV):c.1588-69G>A rs224205 0.46073
NM_000243.3(MEFV):c.1611-90C>T rs1231124 0.41206
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.-614C>G rs11466012 0.01850
NM_000243.3(MEFV):c.*133G>A rs2075849 0.01591
NM_000243.2(MEFV):c.-330G>A rs11466013 0.01286
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NC_000016.10:g.3256969G>A rs533772017 0.00192
NM_000243.3(MEFV):c.1610+10G>T rs11466033 0.00136
NM_000243.3(MEFV):c.911-12G>A rs372016564 0.00092
NM_000243.3(MEFV):c.37C>G (p.Leu13Val) rs139448379 0.00090
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000243.3(MEFV):c.1261-28A>G rs104895140 0.00015
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr) rs104895199 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.*743T>C rs170387
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
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.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.911-18dup

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