ClinVar Miner

List of variants in gene MEFV reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 40
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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.1530T>C (p.Asp510=) rs224206 0.59561
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.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
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.42G>A (p.Glu14=) rs113314808 0.00369
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 0.00019
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000243.3(MEFV):c.663G>C (p.Pro221=) rs104895162 0.00007
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000243.3(MEFV):c.487G>C (p.Glu163Gln) rs759918824 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.99G>A (p.Val33=) rs767848974 0.00003
NM_000243.3(MEFV):c.128G>A (p.Ser43Asn) rs769518848 0.00002
NM_000243.3(MEFV):c.561C>T (p.Ser187=) rs910638883 0.00001
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.258C>T (p.Leu86=)
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup) rs761993422
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.5C>G (p.Ala2Gly) rs200148051
NM_000243.3(MEFV):c.683C>T (p.Pro228Leu)
NM_000243.3(MEFV):c.84G>A (p.Leu28=)
NM_000243.3(MEFV):c.852T>A (p.Asp284Glu)
NM_000243.3(MEFV):c.910+6T>G
NM_000243.3(MEFV):c.910+7T>G

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